Canonical Allele Identifier: CA2687823588
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575790del , CM000670.2:g.86575790del GRCh38
NC_000008.10:g.87588018del , CM000670.1:g.87588018del GRCh37
NC_000008.9:g.87657134del NCBI36
NG_016980.1:g.172888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*16del MANE Select ENSP00000316605.5:n.*16del
ENST00000681546.1:n.2266del
ENST00000681746.1:c.*857del ENSP00000505959.1:n.*857del
ENST00000320005.5:c.*16del ENSP00000316605.5:n.*16del
ENST00000517327.5:c.276+2901del ENSP00000428329.1:n.276+2901del
NM_019098.4:c.*16del NP_061971.3:n.*16del
XM_011517138.1:c.*16del XP_011515440.1:n.*16del
XM_011517138.2:c.*16del XP_011515440.1:n.*16del
NM_019098.5:c.*16del MANE Select NP_061971.3:n.*16del