Canonical Allele Identifier: CA1799868805
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632879_86632882delinsTAAC , CM000670.2:g.86632879_86632882delinsTAAC GRCh38
NC_000008.10:g.87645107_87645110delinsTAAC , CM000670.1:g.87645107_87645110delinsTAAC GRCh37
NC_000008.9:g.87714223_87714226delinsTAAC NCBI36
NG_016980.1:g.115794_115797delinsGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1190_1193delinsGTTA MANE Select ENSP00000316605.5:p.Cys397=
ENST00000681546.1:n.1010_1013delinsGTTA
ENST00000681746.1:c.1190_1193delinsGTTA ENSP00000505959.1:p.Cys397=
ENST00000320005.5:c.1190_1193delinsGTTA ENSP00000316605.5:p.Cys397=
NM_019098.4:c.1190_1193delinsGTTA NP_061971.3:p.Cys397=
XM_011517138.1:c.776_779delinsGTTA XP_011515440.1:p.Cys259=
XM_011517138.2:c.776_779delinsGTTA XP_011515440.1:p.Cys259=
NM_019098.5:c.1190_1193delinsGTTA MANE Select NP_061971.3:p.Cys397=