Canonical Allele Identifier: CA1116229569

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576051_86576054del , CM000670.2:g.86576051_86576054del	GRCh38
NC_000008.10:g.87588279_87588282del , CM000670.1:g.87588279_87588282del	GRCh37
NC_000008.9:g.87657395_87657398del	NCBI36
NG_016980.1:g.172623_172626del

Transcript Alleles

HGVS	Amino-acid Change
NM_019098.5:c.2181_2184del MANE Select	NP_061971.3:p.Glu729MetfsTer?
ENST00000320005.6:c.2181_2184del MANE Select	ENSP00000316605.5:p.Glu729MetfsTer?
NM_019098.4:c.2181_2184del	NP_061971.3:p.Glu729MetfsTer?
ENST00000320005.5:c.2181_2184del	ENSP00000316605.5:p.Glu729MetfsTer?
ENST00000517327.5:c.276+2636_276+2639del	ENSP00000428329.1:n.276+2636_276+2639del
ENST00000681546.1:n.2001_2004del
ENST00000681746.1:c.*592_*595del	ENSP00000505959.1:n.*592_*595del
XM_011517138.1:c.1767_1770del	XP_011515440.1:p.Glu591MetfsTer?
XM_011517138.2:c.1767_1770del	XP_011515440.1:p.Glu591MetfsTer?