Canonical Allele Identifier: CA2687825038

Gene: CNGB3

Linked Data

• gnomAD v4: 8-86632863-T-TAATAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632863_86632864insAATAC , CM000670.2:g.86632863_86632864insAATAC	GRCh38
NC_000008.10:g.87645091_87645092insAATAC , CM000670.1:g.87645091_87645092insAATAC	GRCh37
NC_000008.9:g.87714207_87714208insAATAC	NCBI36
NG_016980.1:g.115812_115813insGTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.1208_1209insGTATT MANE Select	ENSP00000316605.5:p.Thr404TyrfsTer2
ENST00000681546.1:n.1028_1029insGTATT
ENST00000681746.1:c.1208_1209insGTATT	ENSP00000505959.1:p.Thr404TyrfsTer2
ENST00000320005.5:c.1208_1209insGTATT	ENSP00000316605.5:p.Thr404TyrfsTer2
NM_019098.4:c.1208_1209insGTATT	NP_061971.3:p.Thr404TyrfsTer2
XM_011517138.1:c.794_795insGTATT	XP_011515440.1:p.Thr266TyrfsTer2
XM_011517138.2:c.794_795insGTATT	XP_011515440.1:p.Thr266TyrfsTer2
NM_019098.5:c.1208_1209insGTATT MANE Select	NP_061971.3:p.Thr404TyrfsTer2