Canonical Allele Identifier: CA2781158483

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86739875_86739882del , CM000670.2:g.86739875_86739882del	GRCh38
NC_000008.10:g.87752103_87752110del , CM000670.1:g.87752103_87752110del	GRCh37
NC_000008.9:g.87821219_87821226del	NCBI36
NG_016980.1:g.8794_8801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.130-146_130-139del MANE Select	ENSP00000316605.5:n.130-146_130-139del
ENST00000681746.1:c.130-146_130-139del	ENSP00000505959.1:n.130-146_130-139del
ENST00000320005.5:c.130-146_130-139del	ENSP00000316605.5:n.130-146_130-139del
ENST00000519777.1:n.112-146_112-139del
NM_019098.4:c.130-146_130-139del	NP_061971.3:n.130-146_130-139del
NM_019098.5:c.130-146_130-139del MANE Select	NP_061971.3:n.130-146_130-139del