Canonical Allele Identifier: CA982866375
Gene:

Linked Data

gnomAD v3: 17-30237294-AGGGGAGATGCTGGGG-A
gnomAD v4: 17-30237294-AGGGGAGATGCTGGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237298_30237312del , CM000679.2:g.30237298_30237312del GRCh38
NC_000017.10:g.28564316_28564330del , CM000679.1:g.28564316_28564330del GRCh37
NC_000017.9:g.25588442_25588456del NCBI36
NG_011747.2:g.3628_3642del

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+228_165+242del
XR_001752824.1:n.280+228_280+242del
Search 100 bp 5'
Search 100 bp 3'