Canonical Allele Identifier: CA982866491

Gene:

Linked Data

• dbSNP Id: rs1907323728
• gnomAD v3: 17-30237308-GGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGA-G
• gnomAD v4: 17-30237308-GGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237309_30237344del , CM000679.2:g.30237309_30237344del	GRCh38
NC_000017.10:g.28564327_28564362del , CM000679.1:g.28564327_28564362del	GRCh37
NC_000017.9:g.25588453_25588488del	NCBI36
NG_011747.2:g.3593_3628del

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+239_165+274del
XR_001752824.1:n.280+239_280+274del