Canonical Allele Identifier: CA2781154206

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576070_86576071insACAG , CM000670.2:g.86576070_86576071insACAG	GRCh38
NC_000008.10:g.87588298_87588299insACAG , CM000670.1:g.87588298_87588299insACAG	GRCh37
NC_000008.9:g.87657414_87657415insACAG	NCBI36
NG_016980.1:g.172605_172606insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2163_2164insCTGT MANE Select	ENSP00000316605.5:p.Glu722LeufsTer2
ENST00000681546.1:n.1983_1984insCTGT
ENST00000681746.1:c.*574_*575insCTGT	ENSP00000505959.1:n.*574_*575insCTGT
ENST00000320005.5:c.2163_2164insCTGT	ENSP00000316605.5:p.Glu722LeufsTer2
ENST00000517327.5:c.276+2618_276+2619insCTGT	ENSP00000428329.1:n.276+2618_276+2619insCTGT
NM_019098.4:c.2163_2164insCTGT	NP_061971.3:p.Glu722LeufsTer2
XM_011517138.1:c.1749_1750insCTGT	XP_011515440.1:p.Glu584LeufsTer2
XM_011517138.2:c.1749_1750insCTGT	XP_011515440.1:p.Glu584LeufsTer2
NM_019098.5:c.2163_2164insCTGT MANE Select	NP_061971.3:p.Glu722LeufsTer2