Canonical Allele Identifier: CA2577045543
Gene: CNGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98389776del , CM000664.2:g.98389776del GRCh38
NC_000002.11:g.99006239del , CM000664.1:g.99006239del GRCh37
NC_000002.10:g.98372671del NCBI36
NG_009097.1:g.48622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.566+2del MANE Select ENSP00000272602.2:n.566+2del
ENST00000272602.6:c.566+2del ENSP00000272602.2:n.566+2del
ENST00000393504.5:c.566+2del ENSP00000377140.1:n.566+2del
ENST00000409937.1:c.578+2del ENSP00000386761.1:n.578+2del
ENST00000436404.6:c.512+2del ENSP00000410070.2:n.512+2del
NM_001079878.1:c.512+2del NP_001073347.1:n.512+2del
NM_001298.2:c.566+2del NP_001289.1:n.566+2del
XM_006712243.2:c.677+2del XP_006712306.1:n.677+2del
XM_011510554.1:c.731+2del XP_011508856.1:n.731+2del
XM_011510554.2:c.731+2del XP_011508856.1:n.731+2del
NM_001079878.2:c.512+2del NP_001073347.1:n.512+2del
NM_001298.3:c.566+2del MANE Select NP_001289.1:n.566+2del