Canonical Allele Identifier: CA2781154182

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576020_86576021insAG , CM000670.2:g.86576020_86576021insAG	GRCh38
NC_000008.10:g.87588248_87588249insAG , CM000670.1:g.87588248_87588249insAG	GRCh37
NC_000008.9:g.87657364_87657365insAG	NCBI36
NG_016980.1:g.172655_172656insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2213_2214insCT MANE Select	ENSP00000316605.5:p.Glu738AspfsTer2
ENST00000681546.1:n.2033_2034insCT
ENST00000681746.1:c.*624_*625insCT	ENSP00000505959.1:n.*624_*625insCT
ENST00000320005.5:c.2213_2214insCT	ENSP00000316605.5:p.Glu738AspfsTer2
ENST00000517327.5:c.276+2668_276+2669insCT	ENSP00000428329.1:n.276+2668_276+2669insCT
NM_019098.4:c.2213_2214insCT	NP_061971.3:p.Glu738AspfsTer2
XM_011517138.1:c.1799_1800insCT	XP_011515440.1:p.Glu600AspfsTer2
XM_011517138.2:c.1799_1800insCT	XP_011515440.1:p.Glu600AspfsTer2
NM_019098.5:c.2213_2214insCT MANE Select	NP_061971.3:p.Glu738AspfsTer2