Canonical Allele Identifier: CA1108532892

Gene:

Linked Data

• dbSNP Id: rs1801711021
• gnomAD v3: 7-148807248-T-TA
• gnomAD v4: 7-148807248-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807249dup , CM000669.2:g.148807249dup	GRCh38
NC_000007.13:g.148504341dup , CM000669.1:g.148504341dup	GRCh37
NC_000007.12:g.148135274dup	NCBI36
NG_032043.1:g.82101dup , LRG_531:g.82101dup

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2164dup
XR_928102.1:n.722+2164dup