Canonical Allele Identifier: CA982865833
Gene:

Linked Data

gnomAD v3: 17-30237246-AGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGG-A
gnomAD v4: 17-30237246-AGGTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237258_30237342del , CM000679.2:g.30237258_30237342del GRCh38
NC_000017.10:g.28564276_28564360del , CM000679.1:g.28564276_28564360del GRCh37
NC_000017.9:g.25588402_25588486del NCBI36
NG_011747.2:g.3606_3690del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+188_165+272del
XR_001752824.1:n.280+188_280+272del
Search 100 bp 5'
Search 100 bp 3'