Canonical Allele Identifier: CA2669420627

Gene: PDE6B PDE6B-AS1

Linked Data

• gnomAD v4: 4-654339-G-GCCTGTCTGTGGTCTCCACCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654339_654340insCCTGTCTGTGGTCTCCACCAGGC , CM000666.2:g.654339_654340insCCTGTCTGTGGTCTCCACCAGGC	GRCh38
NC_000004.11:g.648128_648129insCCTGTCTGTGGTCTCCACCAGGC , CM000666.1:g.648128_648129insCCTGTCTGTGGTCTCCACCAGGC	GRCh37
NC_000004.10:g.638128_638129insCCTGTCTGTGGTCTCCACCAGGC	NCBI36
NG_009839.1:g.33766_33767insCCTGTCTGTGGTCTCCACCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B) MANE Select	ENSP00000420295.1:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC...
ENST00000255622.10:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	ENSP00000255622.6:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC...
ENST00000429163.6:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	ENSP00000406334.2:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
ENST00000465426.5:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	ENSP00000418454.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
ENST00000467152.1:n.510_511insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)
ENST00000476034.5:n.682_683insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)
ENST00000487902.5:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	ENSP00000418256.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
ENST00000496514.5:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	ENSP00000420295.1:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC...
NM_000283.3:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_000274.2:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001145291.1:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001138763.1:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001145292.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001138764.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513473.1:c.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511775.1:n.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513474.1:c.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511776.1:n.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513475.1:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511777.1:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513476.1:c.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511778.1:n.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513477.1:c.-286_-285insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511779.1:n.-286_-285insCCTGTCTGTGGTCTCCACCAGGC
XM_011513478.1:c.-629_-628insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511780.1:n.-629_-628insCCTGTCTGTGGTCTCCACCAGGC
XR_246615.2:n.866-127_866-126insGCCTGGTGGAGACCACAGACAGG (PDE6B-AS1)
XR_925030.1:n.866-369_866-368insGCCTGGTGGAGACCACAGACAGG (PDE6B-AS1)
NM_001350154.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001337083.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001350155.1:c.-114+185_-114+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001337084.1:n.-114+185_-114+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513473.3:c.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511775.1:n.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513474.3:c.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511776.1:n.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513475.2:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511777.1:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513476.3:c.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511778.1:n.1146+185_1146+186insCCTGTCTGTGGTCTCCACCAGGC
XM_011513478.2:c.-629_-628insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_011511780.1:n.-629_-628insCCTGTCTGTGGTCTCCACCAGGC
XM_017008284.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_016863773.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
XM_017008285.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_016863774.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
XM_017008286.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	XP_016863775.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
XR_001741541.1:n.1108-369_1108-368insGCCTGGTGGAGACCACAGACAGG (PDE6B-AS1)
XR_246615.3:n.1108-127_1108-126insGCCTGGTGGAGACCACAGACAGG (PDE6B-AS1)
NM_001350154.2:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001337083.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001350155.2:c.-114+185_-114+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001337084.1:n.-114+185_-114+186insCCTGTCTGTGGTCTCCACCAGGC
NM_000283.4:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B) MANE Select	NP_000274.3:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001145291.2:c.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001138763.2:n.927+185_927+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001145292.2:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001138764.2:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001350154.3:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001337083.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001350155.3:c.-114+185_-114+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001337084.1:n.-114+185_-114+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001379246.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001366175.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC
NM_001379247.1:c.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC (PDE6B)	NP_001366176.1:n.90+185_90+186insCCTGTCTGTGGTCTCCACCAGGC