Canonical Allele Identifier: CA2592474146

Gene:

Linked Data

• gnomAD v3: 17-30237266-AGGGC-A
• gnomAD v4: 17-30237266-AGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237267_30237270del , CM000679.2:g.30237267_30237270del	GRCh38
NC_000017.10:g.28564285_28564288del , CM000679.1:g.28564285_28564288del	GRCh37
NC_000017.9:g.25588411_25588414del	NCBI36
NG_011747.2:g.3667_3670del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+197_165+200del
XR_001752824.1:n.280+197_280+200del