Canonical Allele Identifier: CA2669420140

Gene: PDE6B PDE6B-AS1

Linked Data

• gnomAD v4: 4-654013-GGACCCCCTGCCTGGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654019_654035del , CM000666.2:g.654019_654035del	GRCh38
NC_000004.11:g.647808_647824del , CM000666.1:g.647808_647824del	GRCh37
NC_000004.10:g.637808_637824del	NCBI36
NG_009839.1:g.33446_33462del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.852+27_852+43del (PDE6B) MANE Select	ENSP00000420295.1:n.852+27_852+43del
ENST00000255622.10:c.852+27_852+43del (PDE6B)	ENSP00000255622.6:n.852+27_852+43del
ENST00000429163.6:c.15+27_15+43del (PDE6B)	ENSP00000406334.2:n.15+27_15+43del
ENST00000465426.5:c.15+27_15+43del (PDE6B)	ENSP00000418454.1:n.15+27_15+43del
ENST00000467152.1:n.250+27_250+43del (PDE6B)
ENST00000474251.5:n.303+27_303+43del (PDE6B)
ENST00000476034.5:n.422+27_422+43del (PDE6B)
ENST00000487902.5:c.15+27_15+43del (PDE6B)	ENSP00000418256.1:n.15+27_15+43del
ENST00000488061.5:c.15+27_15+43del (PDE6B)	ENSP00000420228.1:n.15+27_15+43del
ENST00000496514.5:c.852+27_852+43del (PDE6B)	ENSP00000420295.1:n.852+27_852+43del
NM_000283.3:c.852+27_852+43del (PDE6B)	NP_000274.2:n.852+27_852+43del
NM_001145291.1:c.852+27_852+43del (PDE6B)	NP_001138763.1:n.852+27_852+43del
NM_001145292.1:c.15+27_15+43del (PDE6B)	NP_001138764.1:n.15+27_15+43del
XM_011513473.1:c.1071+27_1071+43del (PDE6B)	XP_011511775.1:n.1071+27_1071+43del
XM_011513474.1:c.1071+27_1071+43del (PDE6B)	XP_011511776.1:n.1071+27_1071+43del
XM_011513475.1:c.852+27_852+43del (PDE6B)	XP_011511777.1:n.852+27_852+43del
XM_011513476.1:c.1071+27_1071+43del (PDE6B)	XP_011511778.1:n.1071+27_1071+43del
XM_011513477.1:c.-546+27_-546+43del (PDE6B)	XP_011511779.1:n.-546+27_-546+43del
XM_011513478.1:c.-889+27_-889+43del (PDE6B)	XP_011511780.1:n.-889+27_-889+43del
XR_246615.2:n.1014+35_1015-43del (PDE6B-AS1)
XR_925030.1:n.866-59_866-43del (PDE6B-AS1)
NM_001350154.1:c.15+27_15+43del (PDE6B)	NP_001337083.1:n.15+27_15+43del
NM_001350155.1:c.-189+27_-189+43del (PDE6B)	NP_001337084.1:n.-189+27_-189+43del
XM_011513473.3:c.1071+27_1071+43del (PDE6B)	XP_011511775.1:n.1071+27_1071+43del
XM_011513474.3:c.1071+27_1071+43del (PDE6B)	XP_011511776.1:n.1071+27_1071+43del
XM_011513475.2:c.852+27_852+43del (PDE6B)	XP_011511777.1:n.852+27_852+43del
XM_011513476.3:c.1071+27_1071+43del (PDE6B)	XP_011511778.1:n.1071+27_1071+43del
XM_011513478.2:c.-889+27_-889+43del (PDE6B)	XP_011511780.1:n.-889+27_-889+43del
XM_017008284.1:c.15+27_15+43del (PDE6B)	XP_016863773.1:n.15+27_15+43del
XM_017008285.1:c.15+27_15+43del (PDE6B)	XP_016863774.1:n.15+27_15+43del
XM_017008286.1:c.15+27_15+43del (PDE6B)	XP_016863775.1:n.15+27_15+43del
XR_001741541.1:n.1108-59_1108-43del (PDE6B-AS1)
XR_246615.3:n.1256+35_1257-43del (PDE6B-AS1)
NM_001350154.2:c.15+27_15+43del (PDE6B)	NP_001337083.1:n.15+27_15+43del
NM_001350155.2:c.-189+27_-189+43del (PDE6B)	NP_001337084.1:n.-189+27_-189+43del
NM_000283.4:c.852+27_852+43del (PDE6B) MANE Select	NP_000274.3:n.852+27_852+43del
NM_001145291.2:c.852+27_852+43del (PDE6B)	NP_001138763.2:n.852+27_852+43del
NM_001145292.2:c.15+27_15+43del (PDE6B)	NP_001138764.2:n.15+27_15+43del
NM_001350154.3:c.15+27_15+43del (PDE6B)	NP_001337083.1:n.15+27_15+43del
NM_001350155.3:c.-189+27_-189+43del (PDE6B)	NP_001337084.1:n.-189+27_-189+43del
NM_001379246.1:c.15+27_15+43del (PDE6B)	NP_001366175.1:n.15+27_15+43del
NM_001379247.1:c.15+27_15+43del (PDE6B)	NP_001366176.1:n.15+27_15+43del