Canonical Allele Identifier: CA2760111368

Gene: PDE6B PDE6B-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654287_654289del , CM000666.2:g.654287_654289del	GRCh38
NC_000004.11:g.648076_648078del , CM000666.1:g.648076_648078del	GRCh37
NC_000004.10:g.638076_638078del	NCBI36
NG_009839.1:g.33714_33716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+133_927+135del (PDE6B) MANE Select	ENSP00000420295.1:n.927+133_927+135del
ENST00000255622.10:c.927+133_927+135del (PDE6B)	ENSP00000255622.6:n.927+133_927+135del
ENST00000429163.6:c.90+133_90+135del (PDE6B)	ENSP00000406334.2:n.90+133_90+135del
ENST00000465426.5:c.90+133_90+135del (PDE6B)	ENSP00000418454.1:n.90+133_90+135del
ENST00000467152.1:n.458_460del (PDE6B)
ENST00000476034.5:n.630_632del (PDE6B)
ENST00000487902.5:c.90+133_90+135del (PDE6B)	ENSP00000418256.1:n.90+133_90+135del
ENST00000496514.5:c.927+133_927+135del (PDE6B)	ENSP00000420295.1:n.927+133_927+135del
NM_000283.3:c.927+133_927+135del (PDE6B)	NP_000274.2:n.927+133_927+135del
NM_001145291.1:c.927+133_927+135del (PDE6B)	NP_001138763.1:n.927+133_927+135del
NM_001145292.1:c.90+133_90+135del (PDE6B)	NP_001138764.1:n.90+133_90+135del
XM_011513473.1:c.1146+133_1146+135del (PDE6B)	XP_011511775.1:n.1146+133_1146+135del
XM_011513474.1:c.1146+133_1146+135del (PDE6B)	XP_011511776.1:n.1146+133_1146+135del
XM_011513475.1:c.927+133_927+135del (PDE6B)	XP_011511777.1:n.927+133_927+135del
XM_011513476.1:c.1146+133_1146+135del (PDE6B)	XP_011511778.1:n.1146+133_1146+135del
XM_011513477.1:c.-338_-336del (PDE6B)	XP_011511779.1:n.-338_-336del
XM_011513478.1:c.-681_-679del (PDE6B)	XP_011511780.1:n.-681_-679del
XR_246615.2:n.866-76_866-74del (PDE6B-AS1)
XR_925030.1:n.866-318_866-316del (PDE6B-AS1)
NM_001350154.1:c.90+133_90+135del (PDE6B)	NP_001337083.1:n.90+133_90+135del
NM_001350155.1:c.-114+133_-114+135del (PDE6B)	NP_001337084.1:n.-114+133_-114+135del
XM_011513473.3:c.1146+133_1146+135del (PDE6B)	XP_011511775.1:n.1146+133_1146+135del
XM_011513474.3:c.1146+133_1146+135del (PDE6B)	XP_011511776.1:n.1146+133_1146+135del
XM_011513475.2:c.927+133_927+135del (PDE6B)	XP_011511777.1:n.927+133_927+135del
XM_011513476.3:c.1146+133_1146+135del (PDE6B)	XP_011511778.1:n.1146+133_1146+135del
XM_011513478.2:c.-681_-679del (PDE6B)	XP_011511780.1:n.-681_-679del
XM_017008284.1:c.90+133_90+135del (PDE6B)	XP_016863773.1:n.90+133_90+135del
XM_017008285.1:c.90+133_90+135del (PDE6B)	XP_016863774.1:n.90+133_90+135del
XM_017008286.1:c.90+133_90+135del (PDE6B)	XP_016863775.1:n.90+133_90+135del
XR_001741541.1:n.1108-318_1108-316del (PDE6B-AS1)
XR_246615.3:n.1108-76_1108-74del (PDE6B-AS1)
NM_001350154.2:c.90+133_90+135del (PDE6B)	NP_001337083.1:n.90+133_90+135del
NM_001350155.2:c.-114+133_-114+135del (PDE6B)	NP_001337084.1:n.-114+133_-114+135del
NM_000283.4:c.927+133_927+135del (PDE6B) MANE Select	NP_000274.3:n.927+133_927+135del
NM_001145291.2:c.927+133_927+135del (PDE6B)	NP_001138763.2:n.927+133_927+135del
NM_001145292.2:c.90+133_90+135del (PDE6B)	NP_001138764.2:n.90+133_90+135del
NM_001350154.3:c.90+133_90+135del (PDE6B)	NP_001337083.1:n.90+133_90+135del
NM_001350155.3:c.-114+133_-114+135del (PDE6B)	NP_001337084.1:n.-114+133_-114+135del
NM_001379246.1:c.90+133_90+135del (PDE6B)	NP_001366175.1:n.90+133_90+135del
NM_001379247.1:c.90+133_90+135del (PDE6B)	NP_001366176.1:n.90+133_90+135del