Canonical Allele Identifier: CA1799829049

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86670598_86670602delinsGAGAT , CM000670.2:g.86670598_86670602delinsGAGAT	GRCh38
NC_000008.10:g.87682826_87682830delinsGAGAT , CM000670.1:g.87682826_87682830delinsGAGAT	GRCh37
NC_000008.9:g.87751942_87751946delinsGAGAT	NCBI36
NG_016980.1:g.78074_78078delinsATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.493+342_493+346delinsATCTC MANE Select	ENSP00000316605.5:n.493+342_493+346delinsATCTC
ENST00000680314.1:n.254+342_254+346delinsATCTC
ENST00000681746.1:c.493+342_493+346delinsATCTC	ENSP00000505959.1:n.493+342_493+346delinsATCTC
ENST00000320005.5:c.493+342_493+346delinsATCTC	ENSP00000316605.5:n.493+342_493+346delinsATCTC
NM_019098.4:c.493+342_493+346delinsATCTC	NP_061971.3:n.493+342_493+346delinsATCTC
XM_011517138.1:c.79+342_79+346delinsATCTC	XP_011515440.1:n.79+342_79+346delinsATCTC
XM_011517138.2:c.79+342_79+346delinsATCTC	XP_011515440.1:n.79+342_79+346delinsATCTC
NM_019098.5:c.493+342_493+346delinsATCTC MANE Select	NP_061971.3:n.493+342_493+346delinsATCTC