Canonical Allele Identifier: CA2751373504

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389849_98389856del , CM000664.2:g.98389849_98389856del	GRCh38
NC_000002.11:g.99006312_99006319del , CM000664.1:g.99006312_99006319del	GRCh37
NC_000002.10:g.98372744_98372751del	NCBI36
NG_009097.1:g.48695_48702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.566+75_566+82del MANE Select	ENSP00000272602.2:n.566+75_566+82del
ENST00000272602.6:c.566+75_566+82del	ENSP00000272602.2:n.566+75_566+82del
ENST00000393504.5:c.566+75_566+82del	ENSP00000377140.1:n.566+75_566+82del
ENST00000409937.1:c.578+75_578+82del	ENSP00000386761.1:n.578+75_578+82del
ENST00000436404.6:c.512+75_512+82del	ENSP00000410070.2:n.512+75_512+82del
NM_001079878.1:c.512+75_512+82del	NP_001073347.1:n.512+75_512+82del
NM_001298.2:c.566+75_566+82del	NP_001289.1:n.566+75_566+82del
XM_006712243.2:c.677+75_677+82del	XP_006712306.1:n.677+75_677+82del
XM_011510554.1:c.731+75_731+82del	XP_011508856.1:n.731+75_731+82del
XM_011510554.2:c.731+75_731+82del	XP_011508856.1:n.731+75_731+82del
NM_001079878.2:c.512+75_512+82del	NP_001073347.1:n.512+75_512+82del
NM_001298.3:c.566+75_566+82del MANE Select	NP_001289.1:n.566+75_566+82del