Canonical Allele Identifier: CA289219288

Gene:

Linked Data

• dbSNP Id: rs5819866
• gnomAD v2: 17-27703303-CT-C
• gnomAD v3: 17-29376285-CT-C
• gnomAD v4: 17-29376285-CT-C
• MyVariant Identifiers: chr17:g.27703304del (hg19) ; chr17:g.29376286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29376287del , CM000679.2:g.29376287del	GRCh38
NC_000017.10:g.27703305del , CM000679.1:g.27703305del	GRCh37
NC_000017.9:g.24727431del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011525588.1:c.1008-5981del	XP_011523890.1:n.1008-5981del