Canonical Allele Identifier: CA2500665764
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707919_8707920insGTTTTTTTTTTTTTTT , CM000686.2:g.8707919_8707920insGTTTTTTTTTTTTTTT GRCh38
NC_000024.9:g.8575960_8575961insGTTTTTTTTTTTTTTT , CM000686.1:g.8575960_8575961insGTTTTTTTTTTTTTTT GRCh37
NC_000024.8:g.8635960_8635961insGTTTTTTTTTTTTTTT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.139+8887_139+8888insGTTTTTTTTTTTTTTT ENSP00000485446.1:n.139+8887_139+8888insG...
ENST00000624593.1:c.-57+40800_-57+40801insAAAAAAAAAAACAAAA ENSP00000485106.1:n.-57+40800_-57+40801in...