Canonical Allele Identifier: CA2687827264

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86668191-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86668192_86668193del , CM000670.2:g.86668192_86668193del	GRCh38
NC_000008.10:g.87680420_87680421del , CM000670.1:g.87680420_87680421del	GRCh37
NC_000008.9:g.87749536_87749537del	NCBI36
NG_016980.1:g.80483_80484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.494-25_494-24del MANE Select	ENSP00000316605.5:n.494-25_494-24del
ENST00000680314.1:n.255-25_255-24del
ENST00000681746.1:c.494-25_494-24del	ENSP00000505959.1:n.494-25_494-24del
ENST00000320005.5:c.494-25_494-24del	ENSP00000316605.5:n.494-25_494-24del
NM_019098.4:c.494-25_494-24del	NP_061971.3:n.494-25_494-24del
XM_011517138.1:c.80-25_80-24del	XP_011515440.1:n.80-25_80-24del
XM_011517138.2:c.80-25_80-24del	XP_011515440.1:n.80-25_80-24del
NM_019098.5:c.494-25_494-24del MANE Select	NP_061971.3:n.494-25_494-24del