Canonical Allele Identifier: CA784579856

Gene:

Linked Data

• dbSNP Id: rs1287068978
• gnomAD v3: 4-102500961-A-ACCG
• gnomAD v4: 4-102500961-A-ACCG
• MyVariant Identifiers: chr4:g.103422118_103422119insCCG (hg19) ; chr4:g.102500961_102500962insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102500970_102500972dup , CM000666.2:g.102500970_102500972dup	GRCh38
NC_000004.11:g.103422127_103422129dup , CM000666.1:g.103422127_103422129dup	GRCh37
NC_000004.10:g.103641159_103641161dup	NCBI36
NG_050628.1:g.4642_4644dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+285_643+287dup	XP_011530769.1:n.643+285_643+287dup
NR_136202.1:n.48+1475_48+1477dup