Canonical Allele Identifier: CA625447456

Gene:

Linked Data

• dbSNP Id: rs1354429506
• gnomAD v2: 17-28564312-AGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGG-A
• gnomAD v3: 17-30237294-AGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGG-A
• gnomAD v4: 17-30237294-AGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGG-A
• MyVariant Identifiers: chr17:g.28564313_28564350del (hg19) ; chr17:g.30237295_30237332del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237296_30237333del , CM000679.2:g.30237296_30237333del	GRCh38
NC_000017.10:g.28564314_28564351del , CM000679.1:g.28564314_28564351del	GRCh37
NC_000017.9:g.25588440_25588477del	NCBI36
NG_011747.2:g.3605_3642del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+226_165+263del
XR_001752824.1:n.280+226_280+263del