Canonical Allele Identifier: CA2592474156

Gene:

Linked Data

• gnomAD v3: 17-30237294-AGGGGAGATGCTGGGGGGGCTGC-A
• gnomAD v4: 17-30237294-AGGGGAGATGCTGGGGGGGCTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237295_30237316del , CM000679.2:g.30237295_30237316del	GRCh38
NC_000017.10:g.28564313_28564334del , CM000679.1:g.28564313_28564334del	GRCh37
NC_000017.9:g.25588439_25588460del	NCBI36
NG_011747.2:g.3621_3642del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+225_165+246del
XR_001752824.1:n.280+225_280+246del