Canonical Allele Identifier: CA2499216316
Gene: CNGA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065327
ClinVar RCV Id: RCV001729908

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98393909_98399093del , CM000664.2:g.98393909_98399093del GRCh38
NC_000002.11:g.99010372_99015556del , CM000664.1:g.99010372_99015556del GRCh37
NC_000002.10:g.98376804_98381988del NCBI36
NG_009097.1:g.52755_57939del

Transcript Alleles

HGVS Amino-acid change
XM_006712243.2:c.785-1935_*1838del
XM_011510554.1:c.839-1935_*1838del
XM_011510554.2:c.839-1935_*1838del