Canonical Allele Identifier: CA2716261454
Gene:

Linked Data

dbSNP Id: rs2129464855

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807193_148807208dup , CM000669.2:g.148807193_148807208dup GRCh38
NC_000007.13:g.148504285_148504300dup , CM000669.1:g.148504285_148504300dup GRCh37
NC_000007.12:g.148135218_148135233dup NCBI36
NG_032043.1:g.82149_82164dup , LRG_531:g.82149_82164dup

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2108_515+2123dup
XR_928102.1:n.722+2108_722+2123dup