Canonical Allele Identifier: CA1027923198

Gene:

Linked Data

• dbSNP Id: rs542524250
• gnomAD v3: 2-16458230-A-ATT
• gnomAD v4: 2-16458230-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458240_16458241dup , CM000664.2:g.16458240_16458241dup	GRCh38
NC_000002.11:g.16639508_16639509dup , CM000664.1:g.16639508_16639509dup	GRCh37
NC_000002.10:g.16502989_16502990dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3138_396-3137dup