Canonical Allele Identifier: CA1432845197
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.654236_654249delinsATAGGGGTGGGGTT , CM000666.2:g.654236_654249delinsATAGGGGTGGGGTT GRCh38
NC_000004.11:g.648025_648038delinsATAGGGGTGGGGTT , CM000666.1:g.648025_648038delinsATAGGGGTGGGGTT GRCh37
NC_000004.10:g.638025_638038delinsATAGGGGTGGGGTT NCBI36
NG_009839.1:g.33663_33676delinsATAGGGGTGGGGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) MANE Select ENSP00000420295.1:n.927+82_927+95delinsATAGGGGTGGGGTT
ENST00000255622.10:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) ENSP00000255622.6:n.927+82_927+95delinsATAGGGGTGGGGTT
ENST00000429163.6:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) ENSP00000406334.2:n.90+82_90+95delinsATAGGGGTGGGGTT
ENST00000465426.5:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) ENSP00000418454.1:n.90+82_90+95delinsATAGGGGTGGGGTT
ENST00000467152.1:n.407_420delinsATAGGGGTGGGGTT (PDE6B)
ENST00000474251.5:n.460_473delinsATAGGGGTGGGGTT (PDE6B)
ENST00000476034.5:n.579_592delinsATAGGGGTGGGGTT (PDE6B)
ENST00000487902.5:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) ENSP00000418256.1:n.90+82_90+95delinsATAGGGGTGGGGTT
ENST00000496514.5:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) ENSP00000420295.1:n.927+82_927+95delinsATAGGGGTGGGGTT
NM_000283.3:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) NP_000274.2:n.927+82_927+95delinsATAGGGGTGGGGTT
NM_001145291.1:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) NP_001138763.1:n.927+82_927+95delinsATAGGGGTGGGGTT
NM_001145292.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001138764.1:n.90+82_90+95delinsATAGGGGTGGGGTT
XM_011513473.1:c.1146+82_1146+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511775.1:n.1146+82_1146+95delinsATAGGGGTGGGGTT
XM_011513474.1:c.1146+82_1146+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511776.1:n.1146+82_1146+95delinsATAGGGGTGGGGTT
XM_011513475.1:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511777.1:n.927+82_927+95delinsATAGGGGTGGGGTT
XM_011513476.1:c.1146+82_1146+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511778.1:n.1146+82_1146+95delinsATAGGGGTGGGGTT
XM_011513477.1:c.-389_-376delinsATAGGGGTGGGGTT (PDE6B) XP_011511779.1:n.-389_-376delinsATAGGGGTGGGGTT
XM_011513478.1:c.-732_-719delinsATAGGGGTGGGGTT (PDE6B) XP_011511780.1:n.-732_-719delinsATAGGGGTGGGGTT
XR_246615.2:n.866-36_866-23delinsAACCCCACCCCTAT (PDE6B-AS1)
XR_925030.1:n.866-278_866-265delinsAACCCCACCCCTAT (PDE6B-AS1)
NM_001350154.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001337083.1:n.90+82_90+95delinsATAGGGGTGGGGTT
NM_001350155.1:c.-114+82_-114+95delinsATAGGGGTGGGGTT (PDE6B) NP_001337084.1:n.-114+82_-114+95delinsATAGGGGTGGGGTT
XM_011513473.3:c.1146+82_1146+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511775.1:n.1146+82_1146+95delinsATAGGGGTGGGGTT
XM_011513474.3:c.1146+82_1146+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511776.1:n.1146+82_1146+95delinsATAGGGGTGGGGTT
XM_011513475.2:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511777.1:n.927+82_927+95delinsATAGGGGTGGGGTT
XM_011513476.3:c.1146+82_1146+95delinsATAGGGGTGGGGTT (PDE6B) XP_011511778.1:n.1146+82_1146+95delinsATAGGGGTGGGGTT
XM_011513478.2:c.-732_-719delinsATAGGGGTGGGGTT (PDE6B) XP_011511780.1:n.-732_-719delinsATAGGGGTGGGGTT
XM_017008284.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) XP_016863773.1:n.90+82_90+95delinsATAGGGGTGGGGTT
XM_017008285.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) XP_016863774.1:n.90+82_90+95delinsATAGGGGTGGGGTT
XM_017008286.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) XP_016863775.1:n.90+82_90+95delinsATAGGGGTGGGGTT
XR_001741541.1:n.1108-278_1108-265delinsAACCCCACCCCTAT (PDE6B-AS1)
XR_246615.3:n.1108-36_1108-23delinsAACCCCACCCCTAT (PDE6B-AS1)
NM_001350154.2:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001337083.1:n.90+82_90+95delinsATAGGGGTGGGGTT
NM_001350155.2:c.-114+82_-114+95delinsATAGGGGTGGGGTT (PDE6B) NP_001337084.1:n.-114+82_-114+95delinsATAGGGGTGGGGTT
NM_000283.4:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) MANE Select NP_000274.3:n.927+82_927+95delinsATAGGGGTGGGGTT
NM_001145291.2:c.927+82_927+95delinsATAGGGGTGGGGTT (PDE6B) NP_001138763.2:n.927+82_927+95delinsATAGGGGTGGGGTT
NM_001145292.2:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001138764.2:n.90+82_90+95delinsATAGGGGTGGGGTT
NM_001350154.3:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001337083.1:n.90+82_90+95delinsATAGGGGTGGGGTT
NM_001350155.3:c.-114+82_-114+95delinsATAGGGGTGGGGTT (PDE6B) NP_001337084.1:n.-114+82_-114+95delinsATAGGGGTGGGGTT
NM_001379246.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001366175.1:n.90+82_90+95delinsATAGGGGTGGGGTT
NM_001379247.1:c.90+82_90+95delinsATAGGGGTGGGGTT (PDE6B) NP_001366176.1:n.90+82_90+95delinsATAGGGGTGGGGTT