Canonical Allele Identifier: CA1799829027

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670589_86670590delinsTA , CM000670.2:g.86670589_86670590delinsTA	GRCh38
NC_000008.10:g.87682817_87682818delinsTA , CM000670.1:g.87682817_87682818delinsTA	GRCh37
NC_000008.9:g.87751933_87751934delinsTA	NCBI36
NG_016980.1:g.78086_78087delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+354_493+355delinsTA MANE Select	ENSP00000316605.5:n.493+354_493+355delinsTA
ENST00000680314.1:n.254+354_254+355delinsTA
ENST00000681746.1:c.493+354_493+355delinsTA	ENSP00000505959.1:n.493+354_493+355delinsTA
ENST00000320005.5:c.493+354_493+355delinsTA	ENSP00000316605.5:n.493+354_493+355delinsTA
NM_019098.4:c.493+354_493+355delinsTA	NP_061971.3:n.493+354_493+355delinsTA
XM_011517138.1:c.79+354_79+355delinsTA	XP_011515440.1:n.79+354_79+355delinsTA
XM_011517138.2:c.79+354_79+355delinsTA	XP_011515440.1:n.79+354_79+355delinsTA
NM_019098.5:c.493+354_493+355delinsTA MANE Select	NP_061971.3:n.493+354_493+355delinsTA