Canonical Allele Identifier: CA2669420445

Gene: PDE6B PDE6B-AS1

Linked Data

• gnomAD v4: 4-654284-T-TCCCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654284_654285insCCCACC , CM000666.2:g.654284_654285insCCCACC	GRCh38
NC_000004.11:g.648073_648074insCCCACC , CM000666.1:g.648073_648074insCCCACC	GRCh37
NC_000004.10:g.638073_638074insCCCACC	NCBI36
NG_009839.1:g.33711_33712insCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+130_927+131insCCCACC (PDE6B) MANE Select	ENSP00000420295.1:n.927+130_927+131insCCCACC
ENST00000255622.10:c.927+130_927+131insCCCACC (PDE6B)	ENSP00000255622.6:n.927+130_927+131insCCCACC
ENST00000429163.6:c.90+130_90+131insCCCACC (PDE6B)	ENSP00000406334.2:n.90+130_90+131insCCCACC
ENST00000465426.5:c.90+130_90+131insCCCACC (PDE6B)	ENSP00000418454.1:n.90+130_90+131insCCCACC
ENST00000467152.1:n.455_456insCCCACC (PDE6B)
ENST00000474251.5:n.508_509insCCCACC (PDE6B)
ENST00000476034.5:n.627_628insCCCACC (PDE6B)
ENST00000487902.5:c.90+130_90+131insCCCACC (PDE6B)	ENSP00000418256.1:n.90+130_90+131insCCCACC
ENST00000496514.5:c.927+130_927+131insCCCACC (PDE6B)	ENSP00000420295.1:n.927+130_927+131insCCCACC
NM_000283.3:c.927+130_927+131insCCCACC (PDE6B)	NP_000274.2:n.927+130_927+131insCCCACC
NM_001145291.1:c.927+130_927+131insCCCACC (PDE6B)	NP_001138763.1:n.927+130_927+131insCCCACC
NM_001145292.1:c.90+130_90+131insCCCACC (PDE6B)	NP_001138764.1:n.90+130_90+131insCCCACC
XM_011513473.1:c.1146+130_1146+131insCCCACC (PDE6B)	XP_011511775.1:n.1146+130_1146+131insCCCACC
XM_011513474.1:c.1146+130_1146+131insCCCACC (PDE6B)	XP_011511776.1:n.1146+130_1146+131insCCCACC
XM_011513475.1:c.927+130_927+131insCCCACC (PDE6B)	XP_011511777.1:n.927+130_927+131insCCCACC
XM_011513476.1:c.1146+130_1146+131insCCCACC (PDE6B)	XP_011511778.1:n.1146+130_1146+131insCCCACC
XM_011513477.1:c.-341_-340insCCCACC (PDE6B)	XP_011511779.1:n.-341_-340insCCCACC
XM_011513478.1:c.-684_-683insCCCACC (PDE6B)	XP_011511780.1:n.-684_-683insCCCACC
XR_246615.2:n.866-72_866-71insGGTGGG (PDE6B-AS1)
XR_925030.1:n.866-314_866-313insGGTGGG (PDE6B-AS1)
NM_001350154.1:c.90+130_90+131insCCCACC (PDE6B)	NP_001337083.1:n.90+130_90+131insCCCACC
NM_001350155.1:c.-114+130_-114+131insCCCACC (PDE6B)	NP_001337084.1:n.-114+130_-114+131insCCCACC
XM_011513473.3:c.1146+130_1146+131insCCCACC (PDE6B)	XP_011511775.1:n.1146+130_1146+131insCCCACC
XM_011513474.3:c.1146+130_1146+131insCCCACC (PDE6B)	XP_011511776.1:n.1146+130_1146+131insCCCACC
XM_011513475.2:c.927+130_927+131insCCCACC (PDE6B)	XP_011511777.1:n.927+130_927+131insCCCACC
XM_011513476.3:c.1146+130_1146+131insCCCACC (PDE6B)	XP_011511778.1:n.1146+130_1146+131insCCCACC
XM_011513478.2:c.-684_-683insCCCACC (PDE6B)	XP_011511780.1:n.-684_-683insCCCACC
XM_017008284.1:c.90+130_90+131insCCCACC (PDE6B)	XP_016863773.1:n.90+130_90+131insCCCACC
XM_017008285.1:c.90+130_90+131insCCCACC (PDE6B)	XP_016863774.1:n.90+130_90+131insCCCACC
XM_017008286.1:c.90+130_90+131insCCCACC (PDE6B)	XP_016863775.1:n.90+130_90+131insCCCACC
XR_001741541.1:n.1108-314_1108-313insGGTGGG (PDE6B-AS1)
XR_246615.3:n.1108-72_1108-71insGGTGGG (PDE6B-AS1)
NM_001350154.2:c.90+130_90+131insCCCACC (PDE6B)	NP_001337083.1:n.90+130_90+131insCCCACC
NM_001350155.2:c.-114+130_-114+131insCCCACC (PDE6B)	NP_001337084.1:n.-114+130_-114+131insCCCACC
NM_000283.4:c.927+130_927+131insCCCACC (PDE6B) MANE Select	NP_000274.3:n.927+130_927+131insCCCACC
NM_001145291.2:c.927+130_927+131insCCCACC (PDE6B)	NP_001138763.2:n.927+130_927+131insCCCACC
NM_001145292.2:c.90+130_90+131insCCCACC (PDE6B)	NP_001138764.2:n.90+130_90+131insCCCACC
NM_001350154.3:c.90+130_90+131insCCCACC (PDE6B)	NP_001337083.1:n.90+130_90+131insCCCACC
NM_001350155.3:c.-114+130_-114+131insCCCACC (PDE6B)	NP_001337084.1:n.-114+130_-114+131insCCCACC
NM_001379246.1:c.90+130_90+131insCCCACC (PDE6B)	NP_001366175.1:n.90+130_90+131insCCCACC
NM_001379247.1:c.90+130_90+131insCCCACC (PDE6B)	NP_001366176.1:n.90+130_90+131insCCCACC