Canonical Allele Identifier: CA2781154179

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576018_86576019insACA , CM000670.2:g.86576018_86576019insACA	GRCh38
NC_000008.10:g.87588246_87588247insACA , CM000670.1:g.87588246_87588247insACA	GRCh37
NC_000008.9:g.87657362_87657363insACA	NCBI36
NG_016980.1:g.172657_172658insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2215_2216insTGT MANE Select	ENSP00000316605.5:p.Asp739delinsValTyr
ENST00000681546.1:n.2035_2036insTGT
ENST00000681746.1:c.*626_*627insTGT	ENSP00000505959.1:n.*626_*627insTGT
ENST00000320005.5:c.2215_2216insTGT	ENSP00000316605.5:p.Asp739delinsValTyr
ENST00000517327.5:c.276+2670_276+2671insTGT	ENSP00000428329.1:n.276+2670_276+2671insTGT
NM_019098.4:c.2215_2216insTGT	NP_061971.3:p.Asp739delinsValTyr
XM_011517138.1:c.1801_1802insTGT	XP_011515440.1:p.Asp601delinsValTyr
XM_011517138.2:c.1801_1802insTGT	XP_011515440.1:p.Asp601delinsValTyr
NM_019098.5:c.2215_2216insTGT MANE Select	NP_061971.3:p.Asp739delinsValTyr