Canonical Allele Identifier: CA2517392169
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129576817_129576820del , CM000671.2:g.129576817_129576820del GRCh38
NC_000009.11:g.132339096_132339099del , CM000671.1:g.132339096_132339099del GRCh37
NC_000009.10:g.131378917_131378920del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930390.1:n.182+1219_182+1222del