Canonical Allele Identifier: CA2569406555
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.654037_654038del , CM000666.2:g.654037_654038del GRCh38
NC_000004.11:g.647826_647827del , CM000666.1:g.647826_647827del GRCh37
NC_000004.10:g.637826_637827del NCBI36
NG_009839.1:g.33464_33465del

Transcript Alleles

HGVS Amino-acid change
ENST00000496514.6:c.853-43_853-42del (PDE6B) MANE Select ENSP00000420295.1:n.853-43_853-42del
ENST00000255622.10:c.853-43_853-42del (PDE6B) ENSP00000255622.6:n.853-43_853-42del
ENST00000429163.6:c.16-43_16-42del (PDE6B) ENSP00000406334.2:n.16-43_16-42del
ENST00000465426.5:c.16-43_16-42del (PDE6B) ENSP00000418454.1:n.16-43_16-42del
ENST00000467152.1:n.251-43_251-42del (PDE6B)
ENST00000474251.5:n.304-43_304-42del (PDE6B)
ENST00000476034.5:n.423-43_423-42del (PDE6B)
ENST00000487902.5:c.16-43_16-42del (PDE6B) ENSP00000418256.1:n.16-43_16-42del
ENST00000488061.5:c.16-43_16-42del (PDE6B) ENSP00000420228.1:n.16-43_16-42del
ENST00000496514.5:c.853-43_853-42del (PDE6B) ENSP00000420295.1:n.853-43_853-42del
NM_000283.3:c.853-43_853-42del (PDE6B) NP_000274.2:n.853-43_853-42del
NM_001145291.1:c.853-43_853-42del (PDE6B) NP_001138763.1:n.853-43_853-42del
NM_001145292.1:c.16-43_16-42del (PDE6B) NP_001138764.1:n.16-43_16-42del
XM_011513473.1:c.1072-43_1072-42del (PDE6B) XP_011511775.1:n.1072-43_1072-42del
XM_011513474.1:c.1072-43_1072-42del (PDE6B) XP_011511776.1:n.1072-43_1072-42del
XM_011513475.1:c.853-43_853-42del (PDE6B) XP_011511777.1:n.853-43_853-42del
XM_011513476.1:c.1072-43_1072-42del (PDE6B) XP_011511778.1:n.1072-43_1072-42del
XM_011513477.1:c.-545-43_-545-42del (PDE6B) XP_011511779.1:n.-545-43_-545-42del
XM_011513478.1:c.-888-43_-888-42del (PDE6B) XP_011511780.1:n.-888-43_-888-42del
XR_246615.2:n.1014+27_1014+28del (PDE6B-AS1)
XR_925030.1:n.866-67_866-66del (PDE6B-AS1)
NM_001350154.1:c.16-43_16-42del (PDE6B) NP_001337083.1:n.16-43_16-42del
NM_001350155.1:c.-188-43_-188-42del (PDE6B) NP_001337084.1:n.-188-43_-188-42del
XM_011513473.3:c.1072-43_1072-42del (PDE6B) XP_011511775.1:n.1072-43_1072-42del
XM_011513474.3:c.1072-43_1072-42del (PDE6B) XP_011511776.1:n.1072-43_1072-42del
XM_011513475.2:c.853-43_853-42del (PDE6B) XP_011511777.1:n.853-43_853-42del
XM_011513476.3:c.1072-43_1072-42del (PDE6B) XP_011511778.1:n.1072-43_1072-42del
XM_011513478.2:c.-888-43_-888-42del (PDE6B) XP_011511780.1:n.-888-43_-888-42del
XM_017008284.1:c.16-43_16-42del (PDE6B) XP_016863773.1:n.16-43_16-42del
XM_017008285.1:c.16-43_16-42del (PDE6B) XP_016863774.1:n.16-43_16-42del
XM_017008286.1:c.16-43_16-42del (PDE6B) XP_016863775.1:n.16-43_16-42del
XR_001741541.1:n.1108-67_1108-66del (PDE6B-AS1)
XR_246615.3:n.1256+27_1256+28del (PDE6B-AS1)
NM_001350154.2:c.16-43_16-42del (PDE6B) NP_001337083.1:n.16-43_16-42del
NM_001350155.2:c.-188-43_-188-42del (PDE6B) NP_001337084.1:n.-188-43_-188-42del
NM_000283.4:c.853-43_853-42del (PDE6B) MANE Select NP_000274.3:n.853-43_853-42del
NM_001145291.2:c.853-43_853-42del (PDE6B) NP_001138763.2:n.853-43_853-42del
NM_001145292.2:c.16-43_16-42del (PDE6B) NP_001138764.2:n.16-43_16-42del
NM_001350154.3:c.16-43_16-42del (PDE6B) NP_001337083.1:n.16-43_16-42del
NM_001350155.3:c.-188-43_-188-42del (PDE6B) NP_001337084.1:n.-188-43_-188-42del
NM_001379246.1:c.16-43_16-42del (PDE6B) NP_001366175.1:n.16-43_16-42del
NM_001379247.1:c.16-43_16-42del (PDE6B) NP_001366176.1:n.16-43_16-42del