Canonical Allele Identifier: CA2781154207

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576072_86576073insACA , CM000670.2:g.86576072_86576073insACA	GRCh38
NC_000008.10:g.87588300_87588301insACA , CM000670.1:g.87588300_87588301insACA	GRCh37
NC_000008.9:g.87657416_87657417insACA	NCBI36
NG_016980.1:g.172603_172604insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2161_2162insTGT MANE Select	ENSP00000316605.5:p.Lys721MetfsTer2
ENST00000681546.1:n.1981_1982insTGT
ENST00000681746.1:c.*572_*573insTGT	ENSP00000505959.1:n.*572_*573insTGT
ENST00000320005.5:c.2161_2162insTGT	ENSP00000316605.5:p.Lys721MetfsTer2
ENST00000517327.5:c.276+2616_276+2617insTGT	ENSP00000428329.1:n.276+2616_276+2617insTGT
NM_019098.4:c.2161_2162insTGT	NP_061971.3:p.Lys721MetfsTer2
XM_011517138.1:c.1747_1748insTGT	XP_011515440.1:p.Lys583MetfsTer2
XM_011517138.2:c.1747_1748insTGT	XP_011515440.1:p.Lys583MetfsTer2
NM_019098.5:c.2161_2162insTGT MANE Select	NP_061971.3:p.Lys721MetfsTer2