Canonical Allele Identifier: CA549123739

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs769380840
• gnomAD v2: 4-648251-C-CGTGTGT
• gnomAD v3: 4-654462-C-CGTGTGT
• gnomAD v4: 4-654462-C-CGTGTGT
• MyVariant Identifiers: chr4:g.648255_648256insGTGTGT (hg19) ; chr4:g.648251_648252insGTGTGT (hg19) ; chr4:g.654466_654467insGTGTGT (hg38) ; chr4:g.654462_654463insGTGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654476_654481dup , CM000666.2:g.654476_654481dup	GRCh38
NC_000004.11:g.648265_648270dup , CM000666.1:g.648265_648270dup	GRCh37
NC_000004.10:g.638265_638270dup	NCBI36
NG_009839.1:g.33903_33908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+322_927+327dup (PDE6B) MANE Select	ENSP00000420295.1:n.927+322_927+327dup
ENST00000255622.10:c.927+322_927+327dup (PDE6B)	ENSP00000255622.6:n.927+322_927+327dup
ENST00000429163.6:c.90+322_90+327dup (PDE6B)	ENSP00000406334.2:n.90+322_90+327dup
ENST00000465426.5:c.90+322_90+327dup (PDE6B)	ENSP00000418454.1:n.90+322_90+327dup
ENST00000476034.5:n.819_824dup (PDE6B)
ENST00000487902.5:c.90+322_90+327dup (PDE6B)	ENSP00000418256.1:n.90+322_90+327dup
ENST00000496514.5:c.927+322_927+327dup (PDE6B)	ENSP00000420295.1:n.927+322_927+327dup
NM_000283.3:c.927+322_927+327dup (PDE6B)	NP_000274.2:n.927+322_927+327dup
NM_001145291.1:c.927+322_927+327dup (PDE6B)	NP_001138763.1:n.927+322_927+327dup
NM_001145292.1:c.90+322_90+327dup (PDE6B)	NP_001138764.1:n.90+322_90+327dup
XM_011513473.1:c.1146+322_1146+327dup (PDE6B)	XP_011511775.1:n.1146+322_1146+327dup
XM_011513474.1:c.1146+322_1146+327dup (PDE6B)	XP_011511776.1:n.1146+322_1146+327dup
XM_011513475.1:c.927+322_927+327dup (PDE6B)	XP_011511777.1:n.927+322_927+327dup
XM_011513476.1:c.1146+322_1146+327dup (PDE6B)	XP_011511778.1:n.1146+322_1146+327dup
XM_011513477.1:c.-149_-144dup (PDE6B)	XP_011511779.1:n.-149_-144dup
XM_011513478.1:c.-492_-487dup (PDE6B)	XP_011511780.1:n.-492_-487dup
XR_246615.2:n.866-255_866-250dup (PDE6B-AS1)
XR_925030.1:n.866-497_866-492dup (PDE6B-AS1)
NM_001350154.1:c.90+322_90+327dup (PDE6B)	NP_001337083.1:n.90+322_90+327dup
NM_001350155.1:c.-114+322_-114+327dup (PDE6B)	NP_001337084.1:n.-114+322_-114+327dup
XM_011513473.3:c.1146+322_1146+327dup (PDE6B)	XP_011511775.1:n.1146+322_1146+327dup
XM_011513474.3:c.1146+322_1146+327dup (PDE6B)	XP_011511776.1:n.1146+322_1146+327dup
XM_011513475.2:c.927+322_927+327dup (PDE6B)	XP_011511777.1:n.927+322_927+327dup
XM_011513476.3:c.1146+322_1146+327dup (PDE6B)	XP_011511778.1:n.1146+322_1146+327dup
XM_011513478.2:c.-492_-487dup (PDE6B)	XP_011511780.1:n.-492_-487dup
XM_017008284.1:c.90+322_90+327dup (PDE6B)	XP_016863773.1:n.90+322_90+327dup
XM_017008285.1:c.90+322_90+327dup (PDE6B)	XP_016863774.1:n.90+322_90+327dup
XM_017008286.1:c.90+322_90+327dup (PDE6B)	XP_016863775.1:n.90+322_90+327dup
XR_001741541.1:n.1108-497_1108-492dup (PDE6B-AS1)
XR_246615.3:n.1108-255_1108-250dup (PDE6B-AS1)
NM_001350154.2:c.90+322_90+327dup (PDE6B)	NP_001337083.1:n.90+322_90+327dup
NM_001350155.2:c.-114+322_-114+327dup (PDE6B)	NP_001337084.1:n.-114+322_-114+327dup
NM_000283.4:c.927+322_927+327dup (PDE6B) MANE Select	NP_000274.3:n.927+322_927+327dup
NM_001145291.2:c.927+322_927+327dup (PDE6B)	NP_001138763.2:n.927+322_927+327dup
NM_001145292.2:c.90+322_90+327dup (PDE6B)	NP_001138764.2:n.90+322_90+327dup
NM_001350154.3:c.90+322_90+327dup (PDE6B)	NP_001337083.1:n.90+322_90+327dup
NM_001350155.3:c.-114+322_-114+327dup (PDE6B)	NP_001337084.1:n.-114+322_-114+327dup
NM_001379246.1:c.90+322_90+327dup (PDE6B)	NP_001366175.1:n.90+322_90+327dup
NM_001379247.1:c.90+322_90+327dup (PDE6B)	NP_001366176.1:n.90+322_90+327dup