Canonical Allele Identifier: CA625447450

Gene:

Linked Data

• dbSNP Id: rs1567826456
• gnomAD v2: 17-28564306-GGGTGC-G
• gnomAD v3: 17-30237288-GGGTGC-G
• gnomAD v4: 17-30237288-GGGTGC-G
• MyVariant Identifiers: chr17:g.28564307_28564311del (hg19) ; chr17:g.30237289_30237293del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237289_30237293del , CM000679.2:g.30237289_30237293del	GRCh38
NC_000017.10:g.28564307_28564311del , CM000679.1:g.28564307_28564311del	GRCh37
NC_000017.9:g.25588433_25588437del	NCBI36
NG_011747.2:g.3644_3648del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+219_165+223del
XR_001752824.1:n.280+219_280+223del