Canonical Allele Identifier: CA2781158486
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739876_86739877insAGA , CM000670.2:g.86739876_86739877insAGA GRCh38
NC_000008.10:g.87752104_87752105insAGA , CM000670.1:g.87752104_87752105insAGA GRCh37
NC_000008.9:g.87821220_87821221insAGA NCBI36
NG_016980.1:g.8799_8800insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-141_130-140insTCT MANE Select ENSP00000316605.5:n.130-141_130-140insTCT
ENST00000681746.1:c.130-141_130-140insTCT ENSP00000505959.1:n.130-141_130-140insTCT
ENST00000320005.5:c.130-141_130-140insTCT ENSP00000316605.5:n.130-141_130-140insTCT
ENST00000519777.1:n.112-141_112-140insTCT
NM_019098.4:c.130-141_130-140insTCT NP_061971.3:n.130-141_130-140insTCT
NM_019098.5:c.130-141_130-140insTCT MANE Select NP_061971.3:n.130-141_130-140insTCT