Canonical Allele Identifier: CA2781154194

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576048_86576049insA , CM000670.2:g.86576048_86576049insA	GRCh38
NC_000008.10:g.87588276_87588277insA , CM000670.1:g.87588276_87588277insA	GRCh37
NC_000008.9:g.87657392_87657393insA	NCBI36
NG_016980.1:g.172627_172628insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2185_2186insT MANE Select	ENSP00000316605.5:p.Glu729ValfsTer3
ENST00000681546.1:n.2005_2006insT
ENST00000681746.1:c.*596_*597insT	ENSP00000505959.1:n.*596_*597insT
ENST00000320005.5:c.2185_2186insT	ENSP00000316605.5:p.Glu729ValfsTer3
ENST00000517327.5:c.276+2640_276+2641insT	ENSP00000428329.1:n.276+2640_276+2641insT
NM_019098.4:c.2185_2186insT	NP_061971.3:p.Glu729ValfsTer3
XM_011517138.1:c.1771_1772insT	XP_011515440.1:p.Glu591ValfsTer3
XM_011517138.2:c.1771_1772insT	XP_011515440.1:p.Glu591ValfsTer3
NM_019098.5:c.2185_2186insT MANE Select	NP_061971.3:p.Glu729ValfsTer3