Canonical Allele Identifier: CA2781158430
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739817_86739818insGT , CM000670.2:g.86739817_86739818insGT GRCh38
NC_000008.10:g.87752045_87752046insGT , CM000670.1:g.87752045_87752046insGT GRCh37
NC_000008.9:g.87821161_87821162insGT NCBI36
NG_016980.1:g.8858_8859insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-82_130-81insAC MANE Select ENSP00000316605.5:n.130-82_130-81insAC
ENST00000681746.1:c.130-82_130-81insAC ENSP00000505959.1:n.130-82_130-81insAC
ENST00000320005.5:c.130-82_130-81insAC ENSP00000316605.5:n.130-82_130-81insAC
ENST00000519777.1:n.112-82_112-81insAC
NM_019098.4:c.130-82_130-81insAC NP_061971.3:n.130-82_130-81insAC
NM_019098.5:c.130-82_130-81insAC MANE Select NP_061971.3:n.130-82_130-81insAC