Canonical Allele Identifier: CA2781154208

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576073_86576074insAC , CM000670.2:g.86576073_86576074insAC	GRCh38
NC_000008.10:g.87588301_87588302insAC , CM000670.1:g.87588301_87588302insAC	GRCh37
NC_000008.9:g.87657417_87657418insAC	NCBI36
NG_016980.1:g.172602_172603insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2160_2161insGT MANE Select	ENSP00000316605.5:p.Lys721ValfsTer?
ENST00000681546.1:n.1980_1981insGT
ENST00000681746.1:c.*571_*572insGT	ENSP00000505959.1:n.*571_*572insGT
ENST00000320005.5:c.2160_2161insGT	ENSP00000316605.5:p.Lys721ValfsTer?
ENST00000517327.5:c.276+2615_276+2616insGT	ENSP00000428329.1:n.276+2615_276+2616insGT
NM_019098.4:c.2160_2161insGT	NP_061971.3:p.Lys721ValfsTer?
XM_011517138.1:c.1746_1747insGT	XP_011515440.1:p.Lys583ValfsTer?
XM_011517138.2:c.1746_1747insGT	XP_011515440.1:p.Lys583ValfsTer?
NM_019098.5:c.2160_2161insGT MANE Select	NP_061971.3:p.Lys721ValfsTer?