Canonical Allele Identifier: CA982866382

Gene:

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237299_30237310del , CM000679.2:g.30237299_30237310del	GRCh38
NC_000017.10:g.28564317_28564328del , CM000679.1:g.28564317_28564328del	GRCh37
NC_000017.9:g.25588443_25588454del	NCBI36
NG_011747.2:g.3631_3642del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+229_165+240del
XR_001752824.1:n.280+229_280+240del