Canonical Allele Identifier: CA2760111354

Gene: PDE6B PDE6B-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654279_654281del , CM000666.2:g.654279_654281del	GRCh38
NC_000004.11:g.648068_648070del , CM000666.1:g.648068_648070del	GRCh37
NC_000004.10:g.638068_638070del	NCBI36
NG_009839.1:g.33706_33708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.927+125_927+127del (PDE6B) MANE Select	ENSP00000420295.1:n.927+125_927+127del
ENST00000255622.10:c.927+125_927+127del (PDE6B)	ENSP00000255622.6:n.927+125_927+127del
ENST00000429163.6:c.90+125_90+127del (PDE6B)	ENSP00000406334.2:n.90+125_90+127del
ENST00000465426.5:c.90+125_90+127del (PDE6B)	ENSP00000418454.1:n.90+125_90+127del
ENST00000467152.1:n.450_452del (PDE6B)
ENST00000474251.5:n.503_505del (PDE6B)
ENST00000476034.5:n.622_624del (PDE6B)
ENST00000487902.5:c.90+125_90+127del (PDE6B)	ENSP00000418256.1:n.90+125_90+127del
ENST00000496514.5:c.927+125_927+127del (PDE6B)	ENSP00000420295.1:n.927+125_927+127del
NM_000283.3:c.927+125_927+127del (PDE6B)	NP_000274.2:n.927+125_927+127del
NM_001145291.1:c.927+125_927+127del (PDE6B)	NP_001138763.1:n.927+125_927+127del
NM_001145292.1:c.90+125_90+127del (PDE6B)	NP_001138764.1:n.90+125_90+127del
XM_011513473.1:c.1146+125_1146+127del (PDE6B)	XP_011511775.1:n.1146+125_1146+127del
XM_011513474.1:c.1146+125_1146+127del (PDE6B)	XP_011511776.1:n.1146+125_1146+127del
XM_011513475.1:c.927+125_927+127del (PDE6B)	XP_011511777.1:n.927+125_927+127del
XM_011513476.1:c.1146+125_1146+127del (PDE6B)	XP_011511778.1:n.1146+125_1146+127del
XM_011513477.1:c.-346_-344del (PDE6B)	XP_011511779.1:n.-346_-344del
XM_011513478.1:c.-689_-687del (PDE6B)	XP_011511780.1:n.-689_-687del
XR_246615.2:n.866-68_866-66del (PDE6B-AS1)
XR_925030.1:n.866-310_866-308del (PDE6B-AS1)
NM_001350154.1:c.90+125_90+127del (PDE6B)	NP_001337083.1:n.90+125_90+127del
NM_001350155.1:c.-114+125_-114+127del (PDE6B)	NP_001337084.1:n.-114+125_-114+127del
XM_011513473.3:c.1146+125_1146+127del (PDE6B)	XP_011511775.1:n.1146+125_1146+127del
XM_011513474.3:c.1146+125_1146+127del (PDE6B)	XP_011511776.1:n.1146+125_1146+127del
XM_011513475.2:c.927+125_927+127del (PDE6B)	XP_011511777.1:n.927+125_927+127del
XM_011513476.3:c.1146+125_1146+127del (PDE6B)	XP_011511778.1:n.1146+125_1146+127del
XM_011513478.2:c.-689_-687del (PDE6B)	XP_011511780.1:n.-689_-687del
XM_017008284.1:c.90+125_90+127del (PDE6B)	XP_016863773.1:n.90+125_90+127del
XM_017008285.1:c.90+125_90+127del (PDE6B)	XP_016863774.1:n.90+125_90+127del
XM_017008286.1:c.90+125_90+127del (PDE6B)	XP_016863775.1:n.90+125_90+127del
XR_001741541.1:n.1108-310_1108-308del (PDE6B-AS1)
XR_246615.3:n.1108-68_1108-66del (PDE6B-AS1)
NM_001350154.2:c.90+125_90+127del (PDE6B)	NP_001337083.1:n.90+125_90+127del
NM_001350155.2:c.-114+125_-114+127del (PDE6B)	NP_001337084.1:n.-114+125_-114+127del
NM_000283.4:c.927+125_927+127del (PDE6B) MANE Select	NP_000274.3:n.927+125_927+127del
NM_001145291.2:c.927+125_927+127del (PDE6B)	NP_001138763.2:n.927+125_927+127del
NM_001145292.2:c.90+125_90+127del (PDE6B)	NP_001138764.2:n.90+125_90+127del
NM_001350154.3:c.90+125_90+127del (PDE6B)	NP_001337083.1:n.90+125_90+127del
NM_001350155.3:c.-114+125_-114+127del (PDE6B)	NP_001337084.1:n.-114+125_-114+127del
NM_001379246.1:c.90+125_90+127del (PDE6B)	NP_001366175.1:n.90+125_90+127del
NM_001379247.1:c.90+125_90+127del (PDE6B)	NP_001366176.1:n.90+125_90+127del