Canonical Allele Identifier: CA2531763131
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400640_13400641insGAGTCACTGCTAAAACATGG , CM000669.2:g.13400640_13400641insGAGTCACTGCTAAAACATGG GRCh38
NC_000007.13:g.13440265_13440266insGAGTCACTGCTAAAACATGG , CM000669.1:g.13440265_13440266insGAGTCACTGCTAAAACATGG GRCh37
NC_000007.12:g.13406790_13406791insGAGTCACTGCTAAAACATGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90317_147+90318insGAGTCACTGCTAAAACATGG