Canonical Allele Identifier: CA2544189656
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707916_8707917insGTTTTTTTTTTTTT , CM000686.2:g.8707916_8707917insGTTTTTTTTTTTTT GRCh38
NC_000024.9:g.8575957_8575958insGTTTTTTTTTTTTT , CM000686.1:g.8575957_8575958insGTTTTTTTTTTTTT GRCh37
NC_000024.8:g.8635957_8635958insGTTTTTTTTTTTTT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.139+8884_139+8885insGTTTTTTTTTTTTT ENSP00000485446.1:n.139+8884_139+8885insG...
ENST00000624593.1:c.-57+40800_-57+40801insAAAAAAAAAAAACA ENSP00000485106.1:n.-57+40800_-57+40801in...