Canonical Allele Identifier: CA652506296

Gene: CNGB3

Linked Data

• COSMIC: COSN15401654

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86574364_86574365insC , CM000670.2:g.86574364_86574365insC	GRCh38
NC_000008.10:g.87586592_87586593insC , CM000670.1:g.87586592_87586593insC	GRCh37
NC_000008.9:g.87655708_87655709insC	NCBI36
NG_016980.1:g.174311_174312insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.*1439_*1440insG MANE Select	ENSP00000316605.5:n.*1439_*1440insG
ENST00000681546.1:n.3689_3690insG
ENST00000681746.1:c.*2280_*2281insG	ENSP00000505959.1:n.*2280_*2281insG
ENST00000320005.5:c.*1439_*1440insG	ENSP00000316605.5:n.*1439_*1440insG
ENST00000517327.5:c.276+4324_276+4325insG	ENSP00000428329.1:n.276+4324_276+4325insG...
NM_019098.4:c.*1439_*1440insG	NP_061971.3:n.*1439_*1440insG
XM_011517138.1:c.*1439_*1440insG	XP_011515440.1:n.*1439_*1440insG
XM_011517138.2:c.*1439_*1440insG	XP_011515440.1:n.*1439_*1440insG
NM_019098.5:c.*1439_*1440insG MANE Select	NP_061971.3:n.*1439_*1440insG