Canonical Allele Identifier: CA2548266084
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739632_86739633insG , CM000670.2:g.86739632_86739633insG GRCh38
NC_000008.10:g.87751860_87751861insG , CM000670.1:g.87751860_87751861insG GRCh37
NC_000008.9:g.87820976_87820977insG NCBI36
NG_016980.1:g.9043_9044insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+22_211+23insC MANE Select ENSP00000316605.5:n.211+22_211+23insC
ENST00000681746.1:c.211+22_211+23insC ENSP00000505959.1:n.211+22_211+23insC
ENST00000320005.5:c.211+22_211+23insC ENSP00000316605.5:n.211+22_211+23insC
ENST00000519777.1:n.193+22_193+23insC
NM_019098.4:c.211+22_211+23insC NP_061971.3:n.211+22_211+23insC
NM_019098.5:c.211+22_211+23insC MANE Select NP_061971.3:n.211+22_211+23insC