Canonical Allele Identifier: CA534638434

Gene:

Linked Data

• dbSNP Id: rs1333955525
• gnomAD v2: 2-88315790-C-CT
• gnomAD v3: 2-88016271-C-CT
• gnomAD v4: 2-88016271-C-CT
• MyVariant Identifiers: chr2:g.88315793_88315797delinsTCTTTA (hg19) ; chr2:g.88315790_88315791insT (hg19) ; chr2:g.88016274_88016278delinsTCTTTA (hg38) ; chr2:g.88016271_88016272insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016273dup , CM000664.2:g.88016273dup	GRCh38
NC_000002.11:g.88315792dup , CM000664.1:g.88315792dup	GRCh37
NC_000002.10:g.88096907dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.618dup
XR_940336.3:n.618dup