Canonical Allele Identifier: CA1799829055

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670600_86670602delinsGAT , CM000670.2:g.86670600_86670602delinsGAT	GRCh38
NC_000008.10:g.87682828_87682830delinsGAT , CM000670.1:g.87682828_87682830delinsGAT	GRCh37
NC_000008.9:g.87751944_87751946delinsGAT	NCBI36
NG_016980.1:g.78074_78076delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+342_493+344delinsATC MANE Select	ENSP00000316605.5:n.493+342_493+344delinsATC
ENST00000680314.1:n.254+342_254+344delinsATC
ENST00000681746.1:c.493+342_493+344delinsATC	ENSP00000505959.1:n.493+342_493+344delinsATC
ENST00000320005.5:c.493+342_493+344delinsATC	ENSP00000316605.5:n.493+342_493+344delinsATC
NM_019098.4:c.493+342_493+344delinsATC	NP_061971.3:n.493+342_493+344delinsATC
XM_011517138.1:c.79+342_79+344delinsATC	XP_011515440.1:n.79+342_79+344delinsATC
XM_011517138.2:c.79+342_79+344delinsATC	XP_011515440.1:n.79+342_79+344delinsATC
NM_019098.5:c.493+342_493+344delinsATC MANE Select	NP_061971.3:n.493+342_493+344delinsATC