Canonical Allele Identifier: CA625447459

Gene:

Linked Data

• dbSNP Id: rs1567826471
• gnomAD v2: 17-28564317-AGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG-A
• gnomAD v3: 17-30237299-AGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG-A
• gnomAD v4: 17-30237299-AGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGG-A
• MyVariant Identifiers: chr17:g.28564318_28564360del (hg19) ; chr17:g.30237300_30237342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237305_30237347del , CM000679.2:g.30237305_30237347del	GRCh38
NC_000017.10:g.28564323_28564365del , CM000679.1:g.28564323_28564365del	GRCh37
NC_000017.9:g.25588449_25588491del	NCBI36
NG_011747.2:g.3595_3637del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+235_165+277del
XR_001752824.1:n.280+235_280+277del