Canonical Allele Identifier: CA2470007441
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707915_8707926delinsATTTTTTTTTTT , CM000686.2:g.8707915_8707926delinsATTTTTTTTTTT GRCh38
NC_000024.9:g.8575956_8575967delinsATTTTTTTTTTT , CM000686.1:g.8575956_8575967delinsATTTTTTTTTTT GRCh37
NC_000024.8:g.8635956_8635967delinsATTTTTTTTTTT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.139+8883_139+8894delinsATTTTTTTTTTT ENSP00000485446.1:n.139+8883_139+8894deli...
ENST00000624593.1:c.-57+40790_-57+40801delinsAAAAAAAAAAAT ENSP00000485106.1:n.-57+40790_-57+40801de...