Canonical Allele Identifier: CA2781154212

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576076_86576077insACA , CM000670.2:g.86576076_86576077insACA	GRCh38
NC_000008.10:g.87588304_87588305insACA , CM000670.1:g.87588304_87588305insACA	GRCh37
NC_000008.9:g.87657420_87657421insACA	NCBI36
NG_016980.1:g.172599_172600insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2157_2158insTGT MANE Select	ENSP00000316605.5:p.Lys719_Gln720insCys
ENST00000681546.1:n.1977_1978insTGT
ENST00000681746.1:c.*568_*569insTGT	ENSP00000505959.1:n.*568_*569insTGT
ENST00000320005.5:c.2157_2158insTGT	ENSP00000316605.5:p.Lys719_Gln720insCys
ENST00000517327.5:c.276+2612_276+2613insTGT	ENSP00000428329.1:n.276+2612_276+2613insTGT
NM_019098.4:c.2157_2158insTGT	NP_061971.3:p.Lys719_Gln720insCys
XM_011517138.1:c.1743_1744insTGT	XP_011515440.1:p.Lys581_Gln582insCys
XM_011517138.2:c.1743_1744insTGT	XP_011515440.1:p.Lys581_Gln582insCys
NM_019098.5:c.2157_2158insTGT MANE Select	NP_061971.3:p.Lys719_Gln720insCys