Canonical Allele Identifier: CA1432853876
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.664764_664768delinsCCATT , CM000666.2:g.664764_664768delinsCCATT GRCh38
NC_000004.11:g.658553_658557delinsCCATT , CM000666.1:g.658553_658557delinsCCATT GRCh37
NC_000004.10:g.648553_648557delinsCCATT NCBI36
NG_009839.1:g.44191_44195delinsCCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.2130-117_2130-113delinsCCATT MANE Select ENSP00000420295.1:n.2130-117_2130-113delinsCCATT
ENST00000255622.10:c.2130-117_2130-113delinsCCATT ENSP00000255622.6:n.2130-117_2130-113delinsCCATT
ENST00000429163.6:c.1293-117_1293-113delinsCCATT ENSP00000406334.2:n.1293-117_1293-113delinsCCATT
ENST00000460119.1:n.500-117_500-113delinsCCATT
ENST00000471824.6:c.210-117_210-113delinsCCATT ENSP00000417852.2:n.210-117_210-113delinsCCATT
ENST00000496514.5:c.2130-117_2130-113delinsCCATT ENSP00000420295.1:n.2130-117_2130-113delinsCCATT
NM_000283.3:c.2130-117_2130-113delinsCCATT NP_000274.2:n.2130-117_2130-113delinsCCATT
NM_001145291.1:c.2130-117_2130-113delinsCCATT NP_001138763.1:n.2130-117_2130-113delinsCCATT
NM_001145292.1:c.1293-117_1293-113delinsCCATT NP_001138764.1:n.1293-117_1293-113delinsCCATT
XM_011513473.1:c.2349-117_2349-113delinsCCATT XP_011511775.1:n.2349-117_2349-113delinsCCATT
XM_011513474.1:c.2349-117_2349-113delinsCCATT XP_011511776.1:n.2349-117_2349-113delinsCCATT
XM_011513475.1:c.2130-117_2130-113delinsCCATT XP_011511777.1:n.2130-117_2130-113delinsCCATT
XM_011513476.1:c.2349-117_2349-113delinsCCATT XP_011511778.1:n.2349-117_2349-113delinsCCATT
XM_011513477.1:c.1335-117_1335-113delinsCCATT XP_011511779.1:n.1335-117_1335-113delinsCCATT
XM_011513478.1:c.1059-117_1059-113delinsCCATT XP_011511780.1:n.1059-117_1059-113delinsCCATT
NM_001350154.1:c.1293-117_1293-113delinsCCATT NP_001337083.1:n.1293-117_1293-113delinsCCATT
NM_001350155.1:c.975-117_975-113delinsCCATT NP_001337084.1:n.975-117_975-113delinsCCATT
XM_011513473.3:c.2349-117_2349-113delinsCCATT XP_011511775.1:n.2349-117_2349-113delinsCCATT
XM_011513474.3:c.2349-117_2349-113delinsCCATT XP_011511776.1:n.2349-117_2349-113delinsCCATT
XM_011513475.2:c.2130-117_2130-113delinsCCATT XP_011511777.1:n.2130-117_2130-113delinsCCATT
XM_011513476.3:c.2349-117_2349-113delinsCCATT XP_011511778.1:n.2349-117_2349-113delinsCCATT
XM_011513478.2:c.1059-117_1059-113delinsCCATT XP_011511780.1:n.1059-117_1059-113delinsCCATT
XM_017008284.1:c.1293-117_1293-113delinsCCATT XP_016863773.1:n.1293-117_1293-113delinsCCATT
XM_017008285.1:c.1293-117_1293-113delinsCCATT XP_016863774.1:n.1293-117_1293-113delinsCCATT
XM_017008286.1:c.1293-117_1293-113delinsCCATT XP_016863775.1:n.1293-117_1293-113delinsCCATT
NM_001350154.2:c.1293-117_1293-113delinsCCATT NP_001337083.1:n.1293-117_1293-113delinsCCATT
NM_001350155.2:c.975-117_975-113delinsCCATT NP_001337084.1:n.975-117_975-113delinsCCATT
NM_000283.4:c.2130-117_2130-113delinsCCATT MANE Select NP_000274.3:n.2130-117_2130-113delinsCCATT
NM_001145291.2:c.2130-117_2130-113delinsCCATT NP_001138763.2:n.2130-117_2130-113delinsCCATT
NM_001145292.2:c.1293-117_1293-113delinsCCATT NP_001138764.2:n.1293-117_1293-113delinsCCATT
NM_001350154.3:c.1293-117_1293-113delinsCCATT NP_001337083.1:n.1293-117_1293-113delinsCCATT
NM_001350155.3:c.975-117_975-113delinsCCATT NP_001337084.1:n.975-117_975-113delinsCCATT
NM_001379246.1:c.1293-117_1293-113delinsCCATT NP_001366175.1:n.1293-117_1293-113delinsCCATT
NM_001379247.1:c.1293-117_1293-113delinsCCATT NP_001366176.1:n.1293-117_1293-113delinsCCATT