Canonical Allele Identifier: CA2840922449
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739624_86739625insG , CM000670.2:g.86739624_86739625insG GRCh38
NC_000008.10:g.87751852_87751853insG , CM000670.1:g.87751852_87751853insG GRCh37
NC_000008.9:g.87820968_87820969insG NCBI36
NG_016980.1:g.9051_9052insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+30_211+31insC MANE Select ENSP00000316605.5:n.211+30_211+31insC
ENST00000681746.1:c.211+30_211+31insC ENSP00000505959.1:n.211+30_211+31insC
ENST00000320005.5:c.211+30_211+31insC ENSP00000316605.5:n.211+30_211+31insC
ENST00000519777.1:n.193+30_193+31insC
NM_019098.4:c.211+30_211+31insC NP_061971.3:n.211+30_211+31insC
NM_019098.5:c.211+30_211+31insC MANE Select NP_061971.3:n.211+30_211+31insC