Canonical Allele Identifier: CA2781154169

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576016del , CM000670.2:g.86576016del	GRCh38
NC_000008.10:g.87588244del , CM000670.1:g.87588244del	GRCh37
NC_000008.9:g.87657360del	NCBI36
NG_016980.1:g.172662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2220del MANE Select	ENSP00000316605.5:p.Asp741IlefsTer?
ENST00000681546.1:n.2040del
ENST00000681746.1:c.*631del	ENSP00000505959.1:n.*631del
ENST00000320005.5:c.2220del	ENSP00000316605.5:p.Asp741IlefsTer?
ENST00000517327.5:c.276+2675del	ENSP00000428329.1:n.276+2675del
NM_019098.4:c.2220del	NP_061971.3:p.Asp741IlefsTer?
XM_011517138.1:c.1806del	XP_011515440.1:p.Asp603IlefsTer?
XM_011517138.2:c.1806del	XP_011515440.1:p.Asp603IlefsTer?
NM_019098.5:c.2220del MANE Select	NP_061971.3:p.Asp741IlefsTer?