Canonical Allele Identifier: CA2687827134

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86667908-TAGATTGAGAATATGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667911_86667925del , CM000670.2:g.86667911_86667925del	GRCh38
NC_000008.10:g.87680139_87680153del , CM000670.1:g.87680139_87680153del	GRCh37
NC_000008.9:g.87749255_87749269del	NCBI36
NG_016980.1:g.80753_80767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.643+96_643+110del MANE Select	ENSP00000316605.5:n.643+96_643+110del
ENST00000681746.1:c.643+96_643+110del	ENSP00000505959.1:n.643+96_643+110del
ENST00000320005.5:c.643+96_643+110del	ENSP00000316605.5:n.643+96_643+110del
NM_019098.4:c.643+96_643+110del	NP_061971.3:n.643+96_643+110del
XM_011517138.1:c.229+96_229+110del	XP_011515440.1:n.229+96_229+110del
XM_011517138.2:c.229+96_229+110del	XP_011515440.1:n.229+96_229+110del
NM_019098.5:c.643+96_643+110del MANE Select	NP_061971.3:n.643+96_643+110del