Canonical Allele Identifier: CA2590977012

Gene: PDE6B PDE6B-AS1

Linked Data

• gnomAD v3: 4-654110-GGA-G
• gnomAD v4: 4-654110-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654114_654115del , CM000666.2:g.654114_654115del	GRCh38
NC_000004.11:g.647903_647904del , CM000666.1:g.647903_647904del	GRCh37
NC_000004.10:g.637903_637904del	NCBI36
NG_009839.1:g.33541_33542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.887_888del (PDE6B) MANE Select	ENSP00000420295.1:p.Glu296ValfsTer11
ENST00000255622.10:c.887_888del (PDE6B)	ENSP00000255622.6:p.Glu296ValfsTer11
ENST00000429163.6:c.50_51del (PDE6B)	ENSP00000406334.2:p.Glu17ValfsTer11
ENST00000465426.5:c.50_51del (PDE6B)	ENSP00000418454.1:p.Glu17ValfsTer11
ENST00000467152.1:n.285_286del (PDE6B)
ENST00000474251.5:n.338_339del (PDE6B)
ENST00000476034.5:n.457_458del (PDE6B)
ENST00000487902.5:c.50_51del (PDE6B)	ENSP00000418256.1:p.Glu17ValfsTer11
ENST00000496514.5:c.887_888del (PDE6B)	ENSP00000420295.1:p.Glu296ValfsTer11
NM_000283.3:c.887_888del (PDE6B)	NP_000274.2:p.Glu296ValfsTer11
NM_001145291.1:c.887_888del (PDE6B)	NP_001138763.1:p.Glu296ValfsTer11
NM_001145292.1:c.50_51del (PDE6B)	NP_001138764.1:p.Glu17ValfsTer11
XM_011513473.1:c.1106_1107del (PDE6B)	XP_011511775.1:p.Glu369ValfsTer11
XM_011513474.1:c.1106_1107del (PDE6B)	XP_011511776.1:p.Glu369ValfsTer11
XM_011513475.1:c.887_888del (PDE6B)	XP_011511777.1:p.Glu296ValfsTer11
XM_011513476.1:c.1106_1107del (PDE6B)	XP_011511778.1:p.Glu369ValfsTer11
XM_011513477.1:c.-511_-510del (PDE6B)	XP_011511779.1:n.-511_-510del
XM_011513478.1:c.-854_-853del (PDE6B)	XP_011511780.1:n.-854_-853del
XR_246615.2:n.967_968del (PDE6B-AS1)
XR_925030.1:n.866-141_866-140del (PDE6B-AS1)
NM_001350154.1:c.50_51del (PDE6B)	NP_001337083.1:p.Glu17ValfsTer11
NM_001350155.1:c.-154_-153del (PDE6B)	NP_001337084.1:n.-154_-153del
XM_011513473.3:c.1106_1107del (PDE6B)	XP_011511775.1:p.Glu369ValfsTer11
XM_011513474.3:c.1106_1107del (PDE6B)	XP_011511776.1:p.Glu369ValfsTer11
XM_011513475.2:c.887_888del (PDE6B)	XP_011511777.1:p.Glu296ValfsTer11
XM_011513476.3:c.1106_1107del (PDE6B)	XP_011511778.1:p.Glu369ValfsTer11
XM_011513478.2:c.-854_-853del (PDE6B)	XP_011511780.1:n.-854_-853del
XM_017008284.1:c.50_51del (PDE6B)	XP_016863773.1:p.Glu17ValfsTer11
XM_017008285.1:c.50_51del (PDE6B)	XP_016863774.1:p.Glu17ValfsTer11
XM_017008286.1:c.50_51del (PDE6B)	XP_016863775.1:p.Glu17ValfsTer11
XR_001741541.1:n.1108-141_1108-140del (PDE6B-AS1)
XR_246615.3:n.1209_1210del (PDE6B-AS1)
NM_001350154.2:c.50_51del (PDE6B)	NP_001337083.1:p.Glu17ValfsTer11
NM_001350155.2:c.-154_-153del (PDE6B)	NP_001337084.1:n.-154_-153del
NM_000283.4:c.887_888del (PDE6B) MANE Select	NP_000274.3:p.Glu296ValfsTer11
NM_001145291.2:c.887_888del (PDE6B)	NP_001138763.2:p.Glu296ValfsTer11
NM_001145292.2:c.50_51del (PDE6B)	NP_001138764.2:p.Glu17ValfsTer11
NM_001350154.3:c.50_51del (PDE6B)	NP_001337083.1:p.Glu17ValfsTer11
NM_001350155.3:c.-154_-153del (PDE6B)	NP_001337084.1:n.-154_-153del
NM_001379246.1:c.50_51del (PDE6B)	NP_001366175.1:p.Glu17ValfsTer11
NM_001379247.1:c.50_51del (PDE6B)	NP_001366176.1:p.Glu17ValfsTer11