Canonical Allele Identifier: CA1273418711

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98393818_98393820delinsTGA , CM000664.2:g.98393818_98393820delinsTGA	GRCh38
NC_000002.11:g.99010281_99010283delinsTGA , CM000664.1:g.99010281_99010283delinsTGA	GRCh37
NC_000002.10:g.98376713_98376715delinsTGA	NCBI36
NG_009097.1:g.52664_52666delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.673+1848_673+1850delinsTGA MANE Select	ENSP00000272602.2:n.673+1848_673+1850delinsTGA
ENST00000272602.6:c.673+1848_673+1850delinsTGA	ENSP00000272602.2:n.673+1848_673+1850delinsTGA
ENST00000393504.5:c.673+1848_673+1850delinsTGA	ENSP00000377140.1:n.673+1848_673+1850delinsTGA
ENST00000409937.1:c.685+1848_685+1850delinsTGA	ENSP00000386761.1:n.685+1848_685+1850delinsTGA
ENST00000436404.6:c.619+1848_619+1850delinsTGA	ENSP00000410070.2:n.619+1848_619+1850delinsTGA
NM_001079878.1:c.619+1848_619+1850delinsTGA	NP_001073347.1:n.619+1848_619+1850delinsTGA
NM_001298.2:c.673+1848_673+1850delinsTGA	NP_001289.1:n.673+1848_673+1850delinsTGA
XM_006712243.2:c.784+1848_784+1850delinsTGA	XP_006712306.1:n.784+1848_784+1850delinsTGA
XM_011510554.1:c.838+1848_838+1850delinsTGA	XP_011508856.1:n.838+1848_838+1850delinsTGA
XM_011510554.2:c.838+1848_838+1850delinsTGA	XP_011508856.1:n.838+1848_838+1850delinsTGA
NM_001079878.2:c.619+1848_619+1850delinsTGA	NP_001073347.1:n.619+1848_619+1850delinsTGA
NM_001298.3:c.673+1848_673+1850delinsTGA MANE Select	NP_001289.1:n.673+1848_673+1850delinsTGA