Canonical Allele Identifier: CA982866616
Gene:

Linked Data

gnomAD v3: 17-30237327-C-CCGGGGG
gnomAD v4: 17-30237327-C-CCGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237327_30237328insCGGGGG , CM000679.2:g.30237327_30237328insCGGGGG GRCh38
NC_000017.10:g.28564345_28564346insCGGGGG , CM000679.1:g.28564345_28564346insCGGGGG GRCh37
NC_000017.9:g.25588471_25588472insCGGGGG NCBI36
NG_011747.2:g.3609_3610insCCCCCG

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+257_165+258insCGGGGG
XR_001752824.1:n.280+257_280+258insCGGGGG
Search 100 bp 5'
Search 100 bp 3'