Canonical Allele Identifier: CA1799829912
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86671042_86671044delinsAGC , CM000670.2:g.86671042_86671044delinsAGC GRCh38
NC_000008.10:g.87683270_87683272delinsAGC , CM000670.1:g.87683270_87683272delinsAGC GRCh37
NC_000008.9:g.87752386_87752388delinsAGC NCBI36
NG_016980.1:g.77632_77634delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.393_395delinsGCT MANE Select ENSP00000316605.5:p.Gln131=
ENST00000680314.1:n.154_156delinsGCT
ENST00000681746.1:c.393_395delinsGCT ENSP00000505959.1:p.Gln131=
ENST00000320005.5:c.393_395delinsGCT ENSP00000316605.5:p.Gln131=
NM_019098.4:c.393_395delinsGCT NP_061971.3:p.Gln131=
XM_011517138.1:c.-22_-20delinsGCT XP_011515440.1:n.-22_-20delinsGCT
XM_011517138.2:c.-22_-20delinsGCT XP_011515440.1:n.-22_-20delinsGCT
NM_019098.5:c.393_395delinsGCT MANE Select NP_061971.3:p.Gln131=