Canonical Allele Identifier: CA2781154202

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576063_86576064insACA , CM000670.2:g.86576063_86576064insACA	GRCh38
NC_000008.10:g.87588291_87588292insACA , CM000670.1:g.87588291_87588292insACA	GRCh37
NC_000008.9:g.87657407_87657408insACA	NCBI36
NG_016980.1:g.172612_172613insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2170_2171insTGT MANE Select	ENSP00000316605.5:p.Glu724ValfsTer2
ENST00000681546.1:n.1990_1991insTGT
ENST00000681746.1:c.*581_*582insTGT	ENSP00000505959.1:n.*581_*582insTGT
ENST00000320005.5:c.2170_2171insTGT	ENSP00000316605.5:p.Glu724ValfsTer2
ENST00000517327.5:c.276+2625_276+2626insTGT	ENSP00000428329.1:n.276+2625_276+2626insTGT
NM_019098.4:c.2170_2171insTGT	NP_061971.3:p.Glu724ValfsTer2
XM_011517138.1:c.1756_1757insTGT	XP_011515440.1:p.Glu586ValfsTer2
XM_011517138.2:c.1756_1757insTGT	XP_011515440.1:p.Glu586ValfsTer2
NM_019098.5:c.2170_2171insTGT MANE Select	NP_061971.3:p.Glu724ValfsTer2