Canonical Allele Identifier: CA2737384064

Gene:

Linked Data

• dbSNP Id: rs2123449020

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.22259267_22259294dup , CM000683.2:g.22259267_22259294dup	GRCh38
NC_000021.8:g.23631587_23631614dup , CM000683.1:g.23631587_23631614dup	GRCh37
NC_000021.7:g.22553458_22553485dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001754978.1:n.221+46454_221+46481dup