Canonical Allele Identifier: CA982865476

Gene:

Linked Data

• gnomAD v3: 17-30237171-ATGCTGG-A
• gnomAD v4: 17-30237171-ATGCTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237172_30237177del , CM000679.2:g.30237172_30237177del	GRCh38
NC_000017.10:g.28564190_28564195del , CM000679.1:g.28564190_28564195del	GRCh37
NC_000017.9:g.25588316_25588321del	NCBI36
NG_011747.2:g.3760_3765del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+102_165+107del
XR_001752824.1:n.280+102_280+107del