Canonical Allele Identifier: CA1799828998

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670577_86670578delinsCT , CM000670.2:g.86670577_86670578delinsCT	GRCh38
NC_000008.10:g.87682805_87682806delinsCT , CM000670.1:g.87682805_87682806delinsCT	GRCh37
NC_000008.9:g.87751921_87751922delinsCT	NCBI36
NG_016980.1:g.78098_78099delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+366_493+367delinsAG MANE Select	ENSP00000316605.5:n.493+366_493+367delinsAG
ENST00000680314.1:n.254+366_254+367delinsAG
ENST00000681746.1:c.493+366_493+367delinsAG	ENSP00000505959.1:n.493+366_493+367delinsAG
ENST00000320005.5:c.493+366_493+367delinsAG	ENSP00000316605.5:n.493+366_493+367delinsAG
NM_019098.4:c.493+366_493+367delinsAG	NP_061971.3:n.493+366_493+367delinsAG
XM_011517138.1:c.79+366_79+367delinsAG	XP_011515440.1:n.79+366_79+367delinsAG
XM_011517138.2:c.79+366_79+367delinsAG	XP_011515440.1:n.79+366_79+367delinsAG
NM_019098.5:c.493+366_493+367delinsAG MANE Select	NP_061971.3:n.493+366_493+367delinsAG