Canonical Allele Identifier: CA982866054
Gene:

Linked Data

gnomAD v3: 17-30237269-GCTGC-G
gnomAD v4: 17-30237269-GCTGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237270_30237273del , CM000679.2:g.30237270_30237273del GRCh38
NC_000017.10:g.28564288_28564291del , CM000679.1:g.28564288_28564291del GRCh37
NC_000017.9:g.25588414_25588417del NCBI36
NG_011747.2:g.3664_3667del

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+200_165+203del
XR_001752824.1:n.280+200_280+203del
Search 100 bp 5'
Search 100 bp 3'