Canonical Allele Identifier: CA1799825451
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643464_86643467delinsTTCC , CM000670.2:g.86643464_86643467delinsTTCC GRCh38
NC_000008.10:g.87655692_87655695delinsTTCC , CM000670.1:g.87655692_87655695delinsTTCC GRCh37
NC_000008.9:g.87724808_87724811delinsTTCC NCBI36
NG_016980.1:g.105209_105212delinsGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1178+284_1178+287delinsGGAA MANE Select ENSP00000316605.5:n.1178+284_1178+287delinsGGAA
ENST00000681546.1:n.998+284_998+287delinsGGAA
ENST00000681746.1:c.1178+284_1178+287delinsGGAA ENSP00000505959.1:n.1178+284_1178+287delinsGGAA
ENST00000320005.5:c.1178+284_1178+287delinsGGAA ENSP00000316605.5:n.1178+284_1178+287delinsGGAA
NM_019098.4:c.1178+284_1178+287delinsGGAA NP_061971.3:n.1178+284_1178+287delinsGGAA
XM_011517138.1:c.764+284_764+287delinsGGAA XP_011515440.1:n.764+284_764+287delinsGGAA
XM_011517138.2:c.764+284_764+287delinsGGAA XP_011515440.1:n.764+284_764+287delinsGGAA
NM_019098.5:c.1178+284_1178+287delinsGGAA MANE Select NP_061971.3:n.1178+284_1178+287delinsGGAA