Canonical Allele Identifier: CA2592474120
Gene:

Linked Data

gnomAD v3: 17-30237159-G-GC
gnomAD v4: 17-30237159-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237159_30237160insC , CM000679.2:g.30237159_30237160insC GRCh38
NC_000017.10:g.28564177_28564178insC , CM000679.1:g.28564177_28564178insC GRCh37
NC_000017.9:g.25588303_25588304insC NCBI36
NG_011747.2:g.3777_3778insG

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+89_165+90insC
XR_001752824.1:n.280+89_280+90insC
Search 100 bp 5'
Search 100 bp 3'