Canonical Allele Identifier: CA2781154211

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576075_86576076insAGTA , CM000670.2:g.86576075_86576076insAGTA	GRCh38
NC_000008.10:g.87588303_87588304insAGTA , CM000670.1:g.87588303_87588304insAGTA	GRCh37
NC_000008.9:g.87657419_87657420insAGTA	NCBI36
NG_016980.1:g.172600_172601insTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2158_2159insTACT MANE Select	ENSP00000316605.5:p.Gln720LeufsTer6
ENST00000681546.1:n.1978_1979insTACT
ENST00000681746.1:c.*569_*570insTACT	ENSP00000505959.1:n.*569_*570insTACT
ENST00000320005.5:c.2158_2159insTACT	ENSP00000316605.5:p.Gln720LeufsTer6
ENST00000517327.5:c.276+2613_276+2614insTACT	ENSP00000428329.1:n.276+2613_276+2614insTACT
NM_019098.4:c.2158_2159insTACT	NP_061971.3:p.Gln720LeufsTer6
XM_011517138.1:c.1744_1745insTACT	XP_011515440.1:p.Gln582LeufsTer6
XM_011517138.2:c.1744_1745insTACT	XP_011515440.1:p.Gln582LeufsTer6
NM_019098.5:c.2158_2159insTACT MANE Select	NP_061971.3:p.Gln720LeufsTer6