Canonical Allele Identifier: CA2669420399

Gene: PDE6B PDE6B-AS1

Linked Data

• gnomAD v4: 4-654266-G-GGGTCGGGCCAGGCAGGGGGTCCCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654267_654268insGTCGGGCCAGGCAGGGGGTCCCTGAG , CM000666.2:g.654267_654268insGTCGGGCCAGGCAGGGGGTCCCTGAG	GRCh38
NC_000004.11:g.648056_648057insGTCGGGCCAGGCAGGGGGTCCCTGAG , CM000666.1:g.648056_648057insGTCGGGCCAGGCAGGGGGTCCCTGAG	GRCh37
NC_000004.10:g.638056_638057insGTCGGGCCAGGCAGGGGGTCCCTGAG	NCBI36
NG_009839.1:g.33694_33695insGTCGGGCCAGGCAGGGGGTCCCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B) MANE Select	ENSP00000420295.1:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCT...
ENST00000255622.10:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	ENSP00000255622.6:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCT...
ENST00000429163.6:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	ENSP00000406334.2:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGA...
ENST00000465426.5:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	ENSP00000418454.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGA...
ENST00000467152.1:n.438_439insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)
ENST00000474251.5:n.491_492insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)
ENST00000476034.5:n.610_611insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)
ENST00000487902.5:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	ENSP00000418256.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGA...
ENST00000496514.5:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	ENSP00000420295.1:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCT...
NM_000283.3:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_000274.2:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001145291.1:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001138763.1:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG...
NM_001145292.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001138764.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
XM_011513473.1:c.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511775.1:n.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513474.1:c.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511776.1:n.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513475.1:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511777.1:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG...
XM_011513476.1:c.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511778.1:n.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513477.1:c.-358_-357insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511779.1:n.-358_-357insGTCGGGCCAGGCAGGGGGTCCCTGAG
XM_011513478.1:c.-701_-700insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511780.1:n.-701_-700insGTCGGGCCAGGCAGGGGGTCCCTGAG
XR_246615.2:n.866-54_866-53insTCAGGGACCCCCTGCCTGGCCCGACC (PDE6B-AS1)
XR_925030.1:n.866-296_866-295insTCAGGGACCCCCTGCCTGGCCCGACC (PDE6B-AS1)
NM_001350154.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001337083.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001350155.1:c.-114+113_-114+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001337084.1:n.-114+113_-114+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513473.3:c.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511775.1:n.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513474.3:c.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511776.1:n.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513475.2:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511777.1:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG...
XM_011513476.3:c.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511778.1:n.1146+113_1146+114insGTCGGGCCAGGCAGGGGGTCCCTG...
XM_011513478.2:c.-701_-700insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_011511780.1:n.-701_-700insGTCGGGCCAGGCAGGGGGTCCCTGAG
XM_017008284.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_016863773.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
XM_017008285.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_016863774.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
XM_017008286.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	XP_016863775.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
XR_001741541.1:n.1108-296_1108-295insTCAGGGACCCCCTGCCTGGCCCGACC (PDE6B-AS1)
XR_246615.3:n.1108-54_1108-53insTCAGGGACCCCCTGCCTGGCCCGACC (PDE6B-AS1)
NM_001350154.2:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001337083.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001350155.2:c.-114+113_-114+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001337084.1:n.-114+113_-114+114insGTCGGGCCAGGCAGGGGGTCCCTG...
NM_000283.4:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B) MANE Select	NP_000274.3:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001145291.2:c.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001138763.2:n.927+113_927+114insGTCGGGCCAGGCAGGGGGTCCCTGAG...
NM_001145292.2:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001138764.2:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001350154.3:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001337083.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001350155.3:c.-114+113_-114+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001337084.1:n.-114+113_-114+114insGTCGGGCCAGGCAGGGGGTCCCTG...
NM_001379246.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001366175.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG
NM_001379247.1:c.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG (PDE6B)	NP_001366176.1:n.90+113_90+114insGTCGGGCCAGGCAGGGGGTCCCTGAG