Canonical Allele Identifier: CA797386033

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs1307462323
• MyVariant Identifiers: chr4:g.648089_648091del (hg19) ; chr4:g.654300_654302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654303_654305del , CM000666.2:g.654303_654305del	GRCh38
NC_000004.11:g.648092_648094del , CM000666.1:g.648092_648094del	GRCh37
NC_000004.10:g.638092_638094del	NCBI36
NG_009839.1:g.33730_33732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+149_927+151del (PDE6B) MANE Select	ENSP00000420295.1:n.927+149_927+151del
ENST00000255622.10:c.927+149_927+151del (PDE6B)	ENSP00000255622.6:n.927+149_927+151del
ENST00000429163.6:c.90+149_90+151del (PDE6B)	ENSP00000406334.2:n.90+149_90+151del
ENST00000465426.5:c.90+149_90+151del (PDE6B)	ENSP00000418454.1:n.90+149_90+151del
ENST00000467152.1:n.474_476del (PDE6B)
ENST00000476034.5:n.646_648del (PDE6B)
ENST00000487902.5:c.90+149_90+151del (PDE6B)	ENSP00000418256.1:n.90+149_90+151del
ENST00000496514.5:c.927+149_927+151del (PDE6B)	ENSP00000420295.1:n.927+149_927+151del
NM_000283.3:c.927+149_927+151del (PDE6B)	NP_000274.2:n.927+149_927+151del
NM_001145291.1:c.927+149_927+151del (PDE6B)	NP_001138763.1:n.927+149_927+151del
NM_001145292.1:c.90+149_90+151del (PDE6B)	NP_001138764.1:n.90+149_90+151del
XM_011513473.1:c.1146+149_1146+151del (PDE6B)	XP_011511775.1:n.1146+149_1146+151del
XM_011513474.1:c.1146+149_1146+151del (PDE6B)	XP_011511776.1:n.1146+149_1146+151del
XM_011513475.1:c.927+149_927+151del (PDE6B)	XP_011511777.1:n.927+149_927+151del
XM_011513476.1:c.1146+149_1146+151del (PDE6B)	XP_011511778.1:n.1146+149_1146+151del
XM_011513477.1:c.-322_-320del (PDE6B)	XP_011511779.1:n.-322_-320del
XM_011513478.1:c.-665_-663del (PDE6B)	XP_011511780.1:n.-665_-663del
XR_246615.2:n.866-89_866-87del (PDE6B-AS1)
XR_925030.1:n.866-331_866-329del (PDE6B-AS1)
NM_001350154.1:c.90+149_90+151del (PDE6B)	NP_001337083.1:n.90+149_90+151del
NM_001350155.1:c.-114+149_-114+151del (PDE6B)	NP_001337084.1:n.-114+149_-114+151del
XM_011513473.3:c.1146+149_1146+151del (PDE6B)	XP_011511775.1:n.1146+149_1146+151del
XM_011513474.3:c.1146+149_1146+151del (PDE6B)	XP_011511776.1:n.1146+149_1146+151del
XM_011513475.2:c.927+149_927+151del (PDE6B)	XP_011511777.1:n.927+149_927+151del
XM_011513476.3:c.1146+149_1146+151del (PDE6B)	XP_011511778.1:n.1146+149_1146+151del
XM_011513478.2:c.-665_-663del (PDE6B)	XP_011511780.1:n.-665_-663del
XM_017008284.1:c.90+149_90+151del (PDE6B)	XP_016863773.1:n.90+149_90+151del
XM_017008285.1:c.90+149_90+151del (PDE6B)	XP_016863774.1:n.90+149_90+151del
XM_017008286.1:c.90+149_90+151del (PDE6B)	XP_016863775.1:n.90+149_90+151del
XR_001741541.1:n.1108-331_1108-329del (PDE6B-AS1)
XR_246615.3:n.1108-89_1108-87del (PDE6B-AS1)
NM_001350154.2:c.90+149_90+151del (PDE6B)	NP_001337083.1:n.90+149_90+151del
NM_001350155.2:c.-114+149_-114+151del (PDE6B)	NP_001337084.1:n.-114+149_-114+151del
NM_000283.4:c.927+149_927+151del (PDE6B) MANE Select	NP_000274.3:n.927+149_927+151del
NM_001145291.2:c.927+149_927+151del (PDE6B)	NP_001138763.2:n.927+149_927+151del
NM_001145292.2:c.90+149_90+151del (PDE6B)	NP_001138764.2:n.90+149_90+151del
NM_001350154.3:c.90+149_90+151del (PDE6B)	NP_001337083.1:n.90+149_90+151del
NM_001350155.3:c.-114+149_-114+151del (PDE6B)	NP_001337084.1:n.-114+149_-114+151del
NM_001379246.1:c.90+149_90+151del (PDE6B)	NP_001366175.1:n.90+149_90+151del
NM_001379247.1:c.90+149_90+151del (PDE6B)	NP_001366176.1:n.90+149_90+151del