Canonical Allele Identifier: CA2760111302
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.654246_654247insA , CM000666.2:g.654246_654247insA GRCh38
NC_000004.11:g.648035_648036insA , CM000666.1:g.648035_648036insA GRCh37
NC_000004.10:g.638035_638036insA NCBI36
NG_009839.1:g.33673_33674insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.927+92_927+93insA (PDE6B) MANE Select ENSP00000420295.1:n.927+92_927+93insA
ENST00000255622.10:c.927+92_927+93insA (PDE6B) ENSP00000255622.6:n.927+92_927+93insA
ENST00000429163.6:c.90+92_90+93insA (PDE6B) ENSP00000406334.2:n.90+92_90+93insA
ENST00000465426.5:c.90+92_90+93insA (PDE6B) ENSP00000418454.1:n.90+92_90+93insA
ENST00000467152.1:n.417_418insA (PDE6B)
ENST00000474251.5:n.470_471insA (PDE6B)
ENST00000476034.5:n.589_590insA (PDE6B)
ENST00000487902.5:c.90+92_90+93insA (PDE6B) ENSP00000418256.1:n.90+92_90+93insA
ENST00000496514.5:c.927+92_927+93insA (PDE6B) ENSP00000420295.1:n.927+92_927+93insA
NM_000283.3:c.927+92_927+93insA (PDE6B) NP_000274.2:n.927+92_927+93insA
NM_001145291.1:c.927+92_927+93insA (PDE6B) NP_001138763.1:n.927+92_927+93insA
NM_001145292.1:c.90+92_90+93insA (PDE6B) NP_001138764.1:n.90+92_90+93insA
XM_011513473.1:c.1146+92_1146+93insA (PDE6B) XP_011511775.1:n.1146+92_1146+93insA
XM_011513474.1:c.1146+92_1146+93insA (PDE6B) XP_011511776.1:n.1146+92_1146+93insA
XM_011513475.1:c.927+92_927+93insA (PDE6B) XP_011511777.1:n.927+92_927+93insA
XM_011513476.1:c.1146+92_1146+93insA (PDE6B) XP_011511778.1:n.1146+92_1146+93insA
XM_011513477.1:c.-379_-378insA (PDE6B) XP_011511779.1:n.-379_-378insA
XM_011513478.1:c.-722_-721insA (PDE6B) XP_011511780.1:n.-722_-721insA
XR_246615.2:n.866-34_866-33insT (PDE6B-AS1)
XR_925030.1:n.866-276_866-275insT (PDE6B-AS1)
NM_001350154.1:c.90+92_90+93insA (PDE6B) NP_001337083.1:n.90+92_90+93insA
NM_001350155.1:c.-114+92_-114+93insA (PDE6B) NP_001337084.1:n.-114+92_-114+93insA
XM_011513473.3:c.1146+92_1146+93insA (PDE6B) XP_011511775.1:n.1146+92_1146+93insA
XM_011513474.3:c.1146+92_1146+93insA (PDE6B) XP_011511776.1:n.1146+92_1146+93insA
XM_011513475.2:c.927+92_927+93insA (PDE6B) XP_011511777.1:n.927+92_927+93insA
XM_011513476.3:c.1146+92_1146+93insA (PDE6B) XP_011511778.1:n.1146+92_1146+93insA
XM_011513478.2:c.-722_-721insA (PDE6B) XP_011511780.1:n.-722_-721insA
XM_017008284.1:c.90+92_90+93insA (PDE6B) XP_016863773.1:n.90+92_90+93insA
XM_017008285.1:c.90+92_90+93insA (PDE6B) XP_016863774.1:n.90+92_90+93insA
XM_017008286.1:c.90+92_90+93insA (PDE6B) XP_016863775.1:n.90+92_90+93insA
XR_001741541.1:n.1108-276_1108-275insT (PDE6B-AS1)
XR_246615.3:n.1108-34_1108-33insT (PDE6B-AS1)
NM_001350154.2:c.90+92_90+93insA (PDE6B) NP_001337083.1:n.90+92_90+93insA
NM_001350155.2:c.-114+92_-114+93insA (PDE6B) NP_001337084.1:n.-114+92_-114+93insA
NM_000283.4:c.927+92_927+93insA (PDE6B) MANE Select NP_000274.3:n.927+92_927+93insA
NM_001145291.2:c.927+92_927+93insA (PDE6B) NP_001138763.2:n.927+92_927+93insA
NM_001145292.2:c.90+92_90+93insA (PDE6B) NP_001138764.2:n.90+92_90+93insA
NM_001350154.3:c.90+92_90+93insA (PDE6B) NP_001337083.1:n.90+92_90+93insA
NM_001350155.3:c.-114+92_-114+93insA (PDE6B) NP_001337084.1:n.-114+92_-114+93insA
NM_001379246.1:c.90+92_90+93insA (PDE6B) NP_001366175.1:n.90+92_90+93insA
NM_001379247.1:c.90+92_90+93insA (PDE6B) NP_001366176.1:n.90+92_90+93insA