Canonical Allele Identifier: CA2565667942
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739637_86739638insCT , CM000670.2:g.86739637_86739638insCT GRCh38
NC_000008.10:g.87751865_87751866insCT , CM000670.1:g.87751865_87751866insCT GRCh37
NC_000008.9:g.87820981_87820982insCT NCBI36
NG_016980.1:g.9039_9040insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+18_211+19insGA MANE Select ENSP00000316605.5:n.211+18_211+19insGA
ENST00000681746.1:c.211+18_211+19insGA ENSP00000505959.1:n.211+18_211+19insGA
ENST00000320005.5:c.211+18_211+19insGA ENSP00000316605.5:n.211+18_211+19insGA
ENST00000519777.1:n.193+18_193+19insGA
NM_019098.4:c.211+18_211+19insGA NP_061971.3:n.211+18_211+19insGA
NM_019098.5:c.211+18_211+19insGA MANE Select NP_061971.3:n.211+18_211+19insGA