Canonical Allele Identifier: CA2527483450

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739891_86739892insTGTCTGATGAAAT , CM000670.2:g.86739891_86739892insTGTCTGATGAAAT	GRCh38
NC_000008.10:g.87752119_87752120insTGTCTGATGAAAT , CM000670.1:g.87752119_87752120insTGTCTGATGAAAT	GRCh37
NC_000008.9:g.87821235_87821236insTGTCTGATGAAAT	NCBI36
NG_016980.1:g.8784_8785insATTTCATCAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-156_130-155insATTTCATCAGACA MANE Select	ENSP00000316605.5:n.130-156_130-155insATTTCATCAGACA
ENST00000681746.1:c.130-156_130-155insATTTCATCAGACA	ENSP00000505959.1:n.130-156_130-155insATTTCATCAGACA
ENST00000320005.5:c.130-156_130-155insATTTCATCAGACA	ENSP00000316605.5:n.130-156_130-155insATTTCATCAGACA
ENST00000519777.1:n.112-156_112-155insATTTCATCAGACA
NM_019098.4:c.130-156_130-155insATTTCATCAGACA	NP_061971.3:n.130-156_130-155insATTTCATCAGACA
NM_019098.5:c.130-156_130-155insATTTCATCAGACA MANE Select	NP_061971.3:n.130-156_130-155insATTTCATCAGACA