Canonical Allele Identifier: CA2601758344

Gene:

Linked Data

• dbSNP Id: rs2104588083
• gnomAD v3: 2-88016142-T-TGAACTC
• gnomAD v4: 2-88016142-T-TGAACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016144_88016149dup , CM000664.2:g.88016144_88016149dup	GRCh38
NC_000002.11:g.88315663_88315668dup , CM000664.1:g.88315663_88315668dup	GRCh37
NC_000002.10:g.88096778_88096783dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.489_494dup
XR_940336.3:n.489_494dup