Canonical Allele Identifier: CA919823930

Gene:

Linked Data

• dbSNP Id: rs774676466
• gnomAD v3: 17-30237266-A-AGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGG
• gnomAD v4: 17-30237266-A-AGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237299_30237341dup , CM000679.2:g.30237299_30237341dup	GRCh38
NC_000017.10:g.28564317_28564359dup , CM000679.1:g.28564317_28564359dup	GRCh37
NC_000017.9:g.25588443_25588485dup	NCBI36
NG_011747.2:g.3628_3670dup

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+229_165+271dup
XR_001752824.1:n.280+229_280+271dup