Canonical Allele Identifier: CA1799829254

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670746_86670747delinsTC , CM000670.2:g.86670746_86670747delinsTC	GRCh38
NC_000008.10:g.87682974_87682975delinsTC , CM000670.1:g.87682974_87682975delinsTC	GRCh37
NC_000008.9:g.87752090_87752091delinsTC	NCBI36
NG_016980.1:g.77929_77930delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+197_493+198delinsGA MANE Select	ENSP00000316605.5:n.493+197_493+198delinsGA
ENST00000680314.1:n.254+197_254+198delinsGA
ENST00000681746.1:c.493+197_493+198delinsGA	ENSP00000505959.1:n.493+197_493+198delinsGA
ENST00000320005.5:c.493+197_493+198delinsGA	ENSP00000316605.5:n.493+197_493+198delinsGA
NM_019098.4:c.493+197_493+198delinsGA	NP_061971.3:n.493+197_493+198delinsGA
XM_011517138.1:c.79+197_79+198delinsGA	XP_011515440.1:n.79+197_79+198delinsGA
XM_011517138.2:c.79+197_79+198delinsGA	XP_011515440.1:n.79+197_79+198delinsGA
NM_019098.5:c.493+197_493+198delinsGA MANE Select	NP_061971.3:n.493+197_493+198delinsGA