Canonical Allele Identifier: CA2742040114

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668178_86668179delinsGA , CM000670.2:g.86668178_86668179delinsGA	GRCh38
NC_000008.10:g.87680406_87680407delinsGA , CM000670.1:g.87680406_87680407delinsGA	GRCh37
NC_000008.9:g.87749522_87749523delinsGA	NCBI36
NG_016980.1:g.80497_80498delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.494-11_494-10delinsTC MANE Select	ENSP00000316605.5:n.494-11_494-10delinsTC
ENST00000680314.1:n.255-11_255-10delinsTC
ENST00000681746.1:c.494-11_494-10delinsTC	ENSP00000505959.1:n.494-11_494-10delinsTC
ENST00000320005.5:c.494-11_494-10delinsTC	ENSP00000316605.5:n.494-11_494-10delinsTC
NM_019098.4:c.494-11_494-10delinsTC	NP_061971.3:n.494-11_494-10delinsTC
XM_011517138.1:c.80-11_80-10delinsTC	XP_011515440.1:n.80-11_80-10delinsTC
XM_011517138.2:c.80-11_80-10delinsTC	XP_011515440.1:n.80-11_80-10delinsTC
NM_019098.5:c.494-11_494-10delinsTC MANE Select	NP_061971.3:n.494-11_494-10delinsTC