Canonical Allele Identifier: CA2781158466

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739855_86739856insACG , CM000670.2:g.86739855_86739856insACG	GRCh38
NC_000008.10:g.87752083_87752084insACG , CM000670.1:g.87752083_87752084insACG	GRCh37
NC_000008.9:g.87821199_87821200insACG	NCBI36
NG_016980.1:g.8820_8821insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-120_130-119insCGT MANE Select	ENSP00000316605.5:n.130-120_130-119insCGT
ENST00000681746.1:c.130-120_130-119insCGT	ENSP00000505959.1:n.130-120_130-119insCGT
ENST00000320005.5:c.130-120_130-119insCGT	ENSP00000316605.5:n.130-120_130-119insCGT
ENST00000519777.1:n.112-120_112-119insCGT
NM_019098.4:c.130-120_130-119insCGT	NP_061971.3:n.130-120_130-119insCGT
NM_019098.5:c.130-120_130-119insCGT MANE Select	NP_061971.3:n.130-120_130-119insCGT