Canonical Allele Identifier: CA43254756

Gene:

Linked Data

• dbSNP Id: rs750102026
• gnomAD v2: 2-16639669-A-ATTATT
• gnomAD v3: 2-16458401-A-ATTATT
• gnomAD v4: 2-16458401-A-ATTATT
• MyVariant Identifiers: chr2:g.16639669_16639670insTTATT (hg19) ; chr2:g.16458401_16458402insTTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458403_16458407dup , CM000664.2:g.16458403_16458407dup	GRCh38
NC_000002.11:g.16639671_16639675dup , CM000664.1:g.16639671_16639675dup	GRCh37
NC_000002.10:g.16503152_16503156dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3312_396-3308dup