Canonical Allele Identifier: CA2781158468

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739858_86739859insACA , CM000670.2:g.86739858_86739859insACA	GRCh38
NC_000008.10:g.87752086_87752087insACA , CM000670.1:g.87752086_87752087insACA	GRCh37
NC_000008.9:g.87821202_87821203insACA	NCBI36
NG_016980.1:g.8817_8818insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-123_130-122insTGT MANE Select	ENSP00000316605.5:n.130-123_130-122insTGT
ENST00000681746.1:c.130-123_130-122insTGT	ENSP00000505959.1:n.130-123_130-122insTGT
ENST00000320005.5:c.130-123_130-122insTGT	ENSP00000316605.5:n.130-123_130-122insTGT
ENST00000519777.1:n.112-123_112-122insTGT
NM_019098.4:c.130-123_130-122insTGT	NP_061971.3:n.130-123_130-122insTGT
NM_019098.5:c.130-123_130-122insTGT MANE Select	NP_061971.3:n.130-123_130-122insTGT