Canonical Allele Identifier: CA652506351

Gene: CNGB3

Linked Data

• COSMIC: COSN20076444

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86575517_86575518insG , CM000670.2:g.86575517_86575518insG	GRCh38
NC_000008.10:g.87587745_87587746insG , CM000670.1:g.87587745_87587746insG	GRCh37
NC_000008.9:g.87656861_87656862insG	NCBI36
NG_016980.1:g.173158_173159insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.*286_*287insC MANE Select	ENSP00000316605.5:n.*286_*287insC
ENST00000681546.1:n.2536_2537insC
ENST00000681746.1:c.*1127_*1128insC	ENSP00000505959.1:n.*1127_*1128insC
ENST00000320005.5:c.*286_*287insC	ENSP00000316605.5:n.*286_*287insC
ENST00000517327.5:c.276+3171_276+3172insC	ENSP00000428329.1:n.276+3171_276+3172insC
NM_019098.4:c.*286_*287insC	NP_061971.3:n.*286_*287insC
XM_011517138.1:c.*286_*287insC	XP_011515440.1:n.*286_*287insC
XM_011517138.2:c.*286_*287insC	XP_011515440.1:n.*286_*287insC
NM_019098.5:c.*286_*287insC MANE Select	NP_061971.3:n.*286_*287insC