Canonical Allele Identifier: CA1799783602

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575593_86575594delinsGA , CM000670.2:g.86575593_86575594delinsGA	GRCh38
NC_000008.10:g.87587821_87587822delinsGA , CM000670.1:g.87587821_87587822delinsGA	GRCh37
NC_000008.9:g.87656937_87656938delinsGA	NCBI36
NG_016980.1:g.173082_173083delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*210_*211delinsTC MANE Select	ENSP00000316605.5:n.*210_*211delinsTC
ENST00000681546.1:n.2460_2461delinsTC
ENST00000681746.1:c.*1051_*1052delinsTC	ENSP00000505959.1:n.*1051_*1052delinsTC
ENST00000320005.5:c.*210_*211delinsTC	ENSP00000316605.5:n.*210_*211delinsTC
ENST00000517327.5:c.276+3095_276+3096delinsTC	ENSP00000428329.1:n.276+3095_276+3096delinsTC
NM_019098.4:c.*210_*211delinsTC	NP_061971.3:n.*210_*211delinsTC
XM_011517138.1:c.*210_*211delinsTC	XP_011515440.1:n.*210_*211delinsTC
XM_011517138.2:c.*210_*211delinsTC	XP_011515440.1:n.*210_*211delinsTC
NM_019098.5:c.*210_*211delinsTC MANE Select	NP_061971.3:n.*210_*211delinsTC