Canonical Allele Identifier: CA2760111406

Gene: PDE6B PDE6B-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654346_654347insAGAT , CM000666.2:g.654346_654347insAGAT	GRCh38
NC_000004.11:g.648135_648136insAGAT , CM000666.1:g.648135_648136insAGAT	GRCh37
NC_000004.10:g.638135_638136insAGAT	NCBI36
NG_009839.1:g.33773_33774insAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+192_927+193insAGAT (PDE6B) MANE Select	ENSP00000420295.1:n.927+192_927+193insAGAT
ENST00000255622.10:c.927+192_927+193insAGAT (PDE6B)	ENSP00000255622.6:n.927+192_927+193insAGAT
ENST00000429163.6:c.90+192_90+193insAGAT (PDE6B)	ENSP00000406334.2:n.90+192_90+193insAGAT
ENST00000465426.5:c.90+192_90+193insAGAT (PDE6B)	ENSP00000418454.1:n.90+192_90+193insAGAT
ENST00000467152.1:n.517_518insAGAT (PDE6B)
ENST00000476034.5:n.689_690insAGAT (PDE6B)
ENST00000487902.5:c.90+192_90+193insAGAT (PDE6B)	ENSP00000418256.1:n.90+192_90+193insAGAT
ENST00000496514.5:c.927+192_927+193insAGAT (PDE6B)	ENSP00000420295.1:n.927+192_927+193insAGAT
NM_000283.3:c.927+192_927+193insAGAT (PDE6B)	NP_000274.2:n.927+192_927+193insAGAT
NM_001145291.1:c.927+192_927+193insAGAT (PDE6B)	NP_001138763.1:n.927+192_927+193insAGAT
NM_001145292.1:c.90+192_90+193insAGAT (PDE6B)	NP_001138764.1:n.90+192_90+193insAGAT
XM_011513473.1:c.1146+192_1146+193insAGAT (PDE6B)	XP_011511775.1:n.1146+192_1146+193insAGAT
XM_011513474.1:c.1146+192_1146+193insAGAT (PDE6B)	XP_011511776.1:n.1146+192_1146+193insAGAT
XM_011513475.1:c.927+192_927+193insAGAT (PDE6B)	XP_011511777.1:n.927+192_927+193insAGAT
XM_011513476.1:c.1146+192_1146+193insAGAT (PDE6B)	XP_011511778.1:n.1146+192_1146+193insAGAT
XM_011513477.1:c.-279_-278insAGAT (PDE6B)	XP_011511779.1:n.-279_-278insAGAT
XM_011513478.1:c.-622_-621insAGAT (PDE6B)	XP_011511780.1:n.-622_-621insAGAT
XR_246615.2:n.866-134_866-133insATCT (PDE6B-AS1)
XR_925030.1:n.866-376_866-375insATCT (PDE6B-AS1)
NM_001350154.1:c.90+192_90+193insAGAT (PDE6B)	NP_001337083.1:n.90+192_90+193insAGAT
NM_001350155.1:c.-114+192_-114+193insAGAT (PDE6B)	NP_001337084.1:n.-114+192_-114+193insAGAT
XM_011513473.3:c.1146+192_1146+193insAGAT (PDE6B)	XP_011511775.1:n.1146+192_1146+193insAGAT
XM_011513474.3:c.1146+192_1146+193insAGAT (PDE6B)	XP_011511776.1:n.1146+192_1146+193insAGAT
XM_011513475.2:c.927+192_927+193insAGAT (PDE6B)	XP_011511777.1:n.927+192_927+193insAGAT
XM_011513476.3:c.1146+192_1146+193insAGAT (PDE6B)	XP_011511778.1:n.1146+192_1146+193insAGAT
XM_011513478.2:c.-622_-621insAGAT (PDE6B)	XP_011511780.1:n.-622_-621insAGAT
XM_017008284.1:c.90+192_90+193insAGAT (PDE6B)	XP_016863773.1:n.90+192_90+193insAGAT
XM_017008285.1:c.90+192_90+193insAGAT (PDE6B)	XP_016863774.1:n.90+192_90+193insAGAT
XM_017008286.1:c.90+192_90+193insAGAT (PDE6B)	XP_016863775.1:n.90+192_90+193insAGAT
XR_001741541.1:n.1108-376_1108-375insATCT (PDE6B-AS1)
XR_246615.3:n.1108-134_1108-133insATCT (PDE6B-AS1)
NM_001350154.2:c.90+192_90+193insAGAT (PDE6B)	NP_001337083.1:n.90+192_90+193insAGAT
NM_001350155.2:c.-114+192_-114+193insAGAT (PDE6B)	NP_001337084.1:n.-114+192_-114+193insAGAT
NM_000283.4:c.927+192_927+193insAGAT (PDE6B) MANE Select	NP_000274.3:n.927+192_927+193insAGAT
NM_001145291.2:c.927+192_927+193insAGAT (PDE6B)	NP_001138763.2:n.927+192_927+193insAGAT
NM_001145292.2:c.90+192_90+193insAGAT (PDE6B)	NP_001138764.2:n.90+192_90+193insAGAT
NM_001350154.3:c.90+192_90+193insAGAT (PDE6B)	NP_001337083.1:n.90+192_90+193insAGAT
NM_001350155.3:c.-114+192_-114+193insAGAT (PDE6B)	NP_001337084.1:n.-114+192_-114+193insAGAT
NM_001379246.1:c.90+192_90+193insAGAT (PDE6B)	NP_001366175.1:n.90+192_90+193insAGAT
NM_001379247.1:c.90+192_90+193insAGAT (PDE6B)	NP_001366176.1:n.90+192_90+193insAGAT