Canonical Allele Identifier: CA1751418965
Gene:

Linked Data

dbSNP Id: rs1801695988

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807202_148807205dup , CM000669.2:g.148807202_148807205dup GRCh38
NC_000007.13:g.148504294_148504297dup , CM000669.1:g.148504294_148504297dup GRCh37
NC_000007.12:g.148135227_148135230dup NCBI36
NG_032043.1:g.82145_82148dup , LRG_531:g.82145_82148dup

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2117_515+2120dup
XR_928102.1:n.722+2117_722+2120dup