Canonical Allele Identifier: CA982865260
Gene:

Linked Data

gnomAD v3: 17-30237139-G-GC
gnomAD v4: 17-30237139-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237139_30237140insC , CM000679.2:g.30237139_30237140insC GRCh38
NC_000017.10:g.28564157_28564158insC , CM000679.1:g.28564157_28564158insC GRCh37
NC_000017.9:g.25588283_25588284insC NCBI36
NG_011747.2:g.3797_3798insG

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+69_165+70insC
XR_001752824.1:n.280+69_280+70insC
Search 100 bp 5'
Search 100 bp 3'