Canonical Allele Identifier: CA982866433

Gene:

Linked Data

• dbSNP Id: rs1907322183
• gnomAD v3: 17-30237298-GAGATGCT-G
• gnomAD v4: 17-30237298-GAGATGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237299_30237305del , CM000679.2:g.30237299_30237305del	GRCh38
NC_000017.10:g.28564317_28564323del , CM000679.1:g.28564317_28564323del	GRCh37
NC_000017.9:g.25588443_25588449del	NCBI36
NG_011747.2:g.3632_3638del

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+229_165+235del
XR_001752824.1:n.280+229_280+235del