Canonical Allele Identifier: CA2781154184

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576025_86576026insAC , CM000670.2:g.86576025_86576026insAC	GRCh38
NC_000008.10:g.87588253_87588254insAC , CM000670.1:g.87588253_87588254insAC	GRCh37
NC_000008.9:g.87657369_87657370insAC	NCBI36
NG_016980.1:g.172650_172651insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2208_2209insGT MANE Select	ENSP00000316605.5:p.Asn737ValfsTer?
ENST00000681546.1:n.2028_2029insGT
ENST00000681746.1:c.*619_*620insGT	ENSP00000505959.1:n.*619_*620insGT
ENST00000320005.5:c.2208_2209insGT	ENSP00000316605.5:p.Asn737ValfsTer?
ENST00000517327.5:c.276+2663_276+2664insGT	ENSP00000428329.1:n.276+2663_276+2664insGT
NM_019098.4:c.2208_2209insGT	NP_061971.3:p.Asn737ValfsTer?
XM_011517138.1:c.1794_1795insGT	XP_011515440.1:p.Asn599ValfsTer?
XM_011517138.2:c.1794_1795insGT	XP_011515440.1:p.Asn599ValfsTer?
NM_019098.5:c.2208_2209insGT MANE Select	NP_061971.3:p.Asn737ValfsTer?