Canonical Allele Identifier: CA982865552
Gene:

Linked Data

gnomAD v3: 17-30237181-G-GC
gnomAD v4: 17-30237181-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237181_30237182insC , CM000679.2:g.30237181_30237182insC GRCh38
NC_000017.10:g.28564199_28564200insC , CM000679.1:g.28564199_28564200insC GRCh37
NC_000017.9:g.25588325_25588326insC NCBI36
NG_011747.2:g.3755_3756insG

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+111_165+112insC
XR_001752824.1:n.280+111_280+112insC
Search 100 bp 5'
Search 100 bp 3'