Entering edit mode
3.2 years ago
arunkumarramrsh
▴
40
I am trying to name a deletion but am stumped. The deletion occurs within a protein coding sequence and is 171 BP long.
ATGTTTAGATTGTCAGTCTTAGTTCTGAACTTACTCCTTGTTAGCCATGAATTCTCGGCAGGAACCGCGAAAATTGAAATTCAGCCATTACCTGCCCTATGCAACGGATACTGCTTCCCCACCCTGAAGCCAGTTATGGAGTATGTTGCTATCCACCAGGACAAATGGAATACTTGTACGGAAATATTAGCGAACGAAGCCCGCAAGGATCAGATCCAGTTGAATATCCAGCTGGATGCCTTGAAAGCAGACGTTTCCAACATAAAGGCATCGCAGCTGTCAAAGGATGAGAAGCTGGACAGGATGGAGCGAGAGCAGTTTGCCATGCATGAATCTTTGGAGACCATCAATCGGTATCTTACAGTGAAACTGGACAGAACGAAATTGCAGCTTGAGGCGATCAAAAACACAATGGATTATATGAAGGCCCAAATGGATGGCTATTTCTCAGCCATAAATGGAGTTCAATGCCTACAGCCAGGATTTGAGAAGATAGGCGATAGATATTTTTACATCGAAGAAGATGTTGAGCTAAATTGGCTGGATGCTCAGGCCAAATGTCGTCGAATGGGAGGTCACCTAGCCTCTATAAAAACTAAACAGGAGTTTGACGCAATCGTAGAGAAGCTCGATGATTCGAAATCATACT**TCCTGGGCGTCAACGAAAACACAAAAACCGGTGACTTTGTGTCTGCAGCCTCCGGAAAAAGTTGTTTGTATCACGAGTGGGGTCCTGGTGAACCCCATCACAATAATGACCAAGAGCGATGCGTTTCAATCTTGCGAAAACTCATGCATGTGGGCAATTGTACTTATGAAA**AAAGATTCATATGCCAGTATGGCATCTAG
While the deletion size is divisible by three, it starts and stops between two codons. When the deletion is removed from the sequence it creates a premature stop codon.
ATGTTTAGATTGTCAGTCTTAGTTCTGAACTTACTCCTTGTTAGCCATGAATTCTCGGCAGGAACCGCGAAAATTGAAATTCAGCCATTACCTGCCCTATGCAACGGATACTGCTTCCCCACCCTGAAGCCAGTTATGGAGTATGTTGCTATCCACCAGGACAAATGGAATACTTGTACGGAAATATTAGCGAACGAAGCCCGCAAGGATCAGATCCAGTTGAATATCCAGCTGGATGCCTTGAAAGCAGACGTTTCCAACATAAAGGCATCGCAGCTGTCAAAGGATGAGAAGCTGGACAGGATGGAGCGAGAGCAGTTTGCCATGCATGAATCTTTGGAGACCATCAATCGGTATCTTACAGTGAAACTGGACAGAACGAAATTGCAGCTTGAGGCGATCAAAAACACAATGGATTATATGAAGGCCCAAATGGATGGCTATTTCTCAGCCATAAATGGAGTTCAATGCCTACAGCCAGGATTTGAGAAGATAGGCGATAGATATTTTTACATCGAAGAAGATGTTGAGCTAAATTGGCTGGATGCTCAGGCCAAATGTCGTCGAATGGGAGGTCACCTAGCCTCTATAAAAACTAAACAGGAGTTTGACGCAATCGTAGAGAAGCTCGATGATTCGAAATCATAC**TAA**AGATTCATATGCCAGTATGGCATCTAG
How to name this deletion? I have been trying to use hgvs guidelines from this website
Using the protein-based naming, I thought of p.Phe217_Glu273del* / p.Phe217_Glu273delfs* / Phe217*
I am not sure if this is correct.