Canonical Allele Identifier: CA982866568
Gene:

Linked Data

gnomAD v3: 17-30237316-CA-C
gnomAD v4: 17-30237316-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237317del , CM000679.2:g.30237317del GRCh38
NC_000017.10:g.28564335del , CM000679.1:g.28564335del GRCh37
NC_000017.9:g.25588461del NCBI36
NG_011747.2:g.3620del

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+247del
XR_001752824.1:n.280+247del
Search 100 bp 5'
Search 100 bp 3'