Canonical Allele Identifier: CA2781158464

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739855_86739856insACA , CM000670.2:g.86739855_86739856insACA	GRCh38
NC_000008.10:g.87752083_87752084insACA , CM000670.1:g.87752083_87752084insACA	GRCh37
NC_000008.9:g.87821199_87821200insACA	NCBI36
NG_016980.1:g.8820_8821insTGT

Transcript Alleles

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