Canonical Allele Identifier: CA2781154170

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576014_86576015insA , CM000670.2:g.86576014_86576015insA	GRCh38
NC_000008.10:g.87588242_87588243insA , CM000670.1:g.87588242_87588243insA	GRCh37
NC_000008.9:g.87657358_87657359insA	NCBI36
NG_016980.1:g.172661_172662insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2219_2220insT MANE Select	ENSP00000316605.5:p.Lys740AsnfsTer3
ENST00000681546.1:n.2039_2040insT
ENST00000681746.1:c.*630_*631insT	ENSP00000505959.1:n.*630_*631insT
ENST00000320005.5:c.2219_2220insT	ENSP00000316605.5:p.Lys740AsnfsTer3
ENST00000517327.5:c.276+2674_276+2675insT	ENSP00000428329.1:n.276+2674_276+2675insT
NM_019098.4:c.2219_2220insT	NP_061971.3:p.Lys740AsnfsTer3
XM_011517138.1:c.1805_1806insT	XP_011515440.1:p.Lys602AsnfsTer3
XM_011517138.2:c.1805_1806insT	XP_011515440.1:p.Lys602AsnfsTer3
NM_019098.5:c.2219_2220insT MANE Select	NP_061971.3:p.Lys740AsnfsTer3