Canonical Allele Identifier: CA2781158490
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739880_86739881insACG , CM000670.2:g.86739880_86739881insACG GRCh38
NC_000008.10:g.87752108_87752109insACG , CM000670.1:g.87752108_87752109insACG GRCh37
NC_000008.9:g.87821224_87821225insACG NCBI36
NG_016980.1:g.8795_8796insCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-145_130-144insCGT MANE Select ENSP00000316605.5:n.130-145_130-144insCGT
ENST00000681746.1:c.130-145_130-144insCGT ENSP00000505959.1:n.130-145_130-144insCGT
ENST00000320005.5:c.130-145_130-144insCGT ENSP00000316605.5:n.130-145_130-144insCGT
ENST00000519777.1:n.112-145_112-144insCGT
NM_019098.4:c.130-145_130-144insCGT NP_061971.3:n.130-145_130-144insCGT
NM_019098.5:c.130-145_130-144insCGT MANE Select NP_061971.3:n.130-145_130-144insCGT