Canonical Allele Identifier: CA2781158469

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739859_86739860insAC , CM000670.2:g.86739859_86739860insAC	GRCh38
NC_000008.10:g.87752087_87752088insAC , CM000670.1:g.87752087_87752088insAC	GRCh37
NC_000008.9:g.87821203_87821204insAC	NCBI36
NG_016980.1:g.8816_8817insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-124_130-123insGT MANE Select	ENSP00000316605.5:n.130-124_130-123insGT
ENST00000681746.1:c.130-124_130-123insGT	ENSP00000505959.1:n.130-124_130-123insGT
ENST00000320005.5:c.130-124_130-123insGT	ENSP00000316605.5:n.130-124_130-123insGT
ENST00000519777.1:n.112-124_112-123insGT
NM_019098.4:c.130-124_130-123insGT	NP_061971.3:n.130-124_130-123insGT
NM_019098.5:c.130-124_130-123insGT MANE Select	NP_061971.3:n.130-124_130-123insGT