Canonical Allele Identifier: CA2760112081
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.665122_665123insA , CM000666.2:g.665122_665123insA GRCh38
NC_000004.11:g.658911_658912insA , CM000666.1:g.658911_658912insA GRCh37
NC_000004.10:g.648911_648912insA NCBI36
NG_009839.1:g.44549_44550insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.2194-133_2194-132insA MANE Select ENSP00000420295.1:n.2194-133_2194-132insA
ENST00000255622.10:c.2194-133_2194-132insA ENSP00000255622.6:n.2194-133_2194-132insA
ENST00000429163.6:c.1357-133_1357-132insA ENSP00000406334.2:n.1357-133_1357-132insA
ENST00000461490.1:c.36-133_36-132insA
ENST00000471824.6:c.274-133_274-132insA ENSP00000417852.2:n.274-133_274-132insA
ENST00000496514.5:c.2194-133_2194-132insA ENSP00000420295.1:n.2194-133_2194-132insA
NM_000283.3:c.2194-133_2194-132insA NP_000274.2:n.2194-133_2194-132insA
NM_001145291.1:c.2194-133_2194-132insA NP_001138763.1:n.2194-133_2194-132insA
NM_001145292.1:c.1357-133_1357-132insA NP_001138764.1:n.1357-133_1357-132insA
XM_011513473.1:c.2413-133_2413-132insA XP_011511775.1:n.2413-133_2413-132insA
XM_011513474.1:c.2413-133_2413-132insA XP_011511776.1:n.2413-133_2413-132insA
XM_011513475.1:c.2194-133_2194-132insA XP_011511777.1:n.2194-133_2194-132insA
XM_011513476.1:c.2413-133_2413-132insA XP_011511778.1:n.2413-133_2413-132insA
XM_011513477.1:c.1399-133_1399-132insA XP_011511779.1:n.1399-133_1399-132insA
XM_011513478.1:c.1123-133_1123-132insA XP_011511780.1:n.1123-133_1123-132insA
NM_001350154.1:c.1357-133_1357-132insA NP_001337083.1:n.1357-133_1357-132insA
NM_001350155.1:c.1039-133_1039-132insA NP_001337084.1:n.1039-133_1039-132insA
XM_011513473.3:c.2413-133_2413-132insA XP_011511775.1:n.2413-133_2413-132insA
XM_011513474.3:c.2413-133_2413-132insA XP_011511776.1:n.2413-133_2413-132insA
XM_011513475.2:c.2194-133_2194-132insA XP_011511777.1:n.2194-133_2194-132insA
XM_011513476.3:c.2413-133_2413-132insA XP_011511778.1:n.2413-133_2413-132insA
XM_011513478.2:c.1123-133_1123-132insA XP_011511780.1:n.1123-133_1123-132insA
XM_017008284.1:c.1357-133_1357-132insA XP_016863773.1:n.1357-133_1357-132insA
XM_017008285.1:c.1357-133_1357-132insA XP_016863774.1:n.1357-133_1357-132insA
XM_017008286.1:c.1357-133_1357-132insA XP_016863775.1:n.1357-133_1357-132insA
NM_001350154.2:c.1357-133_1357-132insA NP_001337083.1:n.1357-133_1357-132insA
NM_001350155.2:c.1039-133_1039-132insA NP_001337084.1:n.1039-133_1039-132insA
NM_000283.4:c.2194-133_2194-132insA MANE Select NP_000274.3:n.2194-133_2194-132insA
NM_001145291.2:c.2194-133_2194-132insA NP_001138763.2:n.2194-133_2194-132insA
NM_001145292.2:c.1357-133_1357-132insA NP_001138764.2:n.1357-133_1357-132insA
NM_001350154.3:c.1357-133_1357-132insA NP_001337083.1:n.1357-133_1357-132insA
NM_001350155.3:c.1039-133_1039-132insA NP_001337084.1:n.1039-133_1039-132insA
NM_001379246.1:c.1357-133_1357-132insA NP_001366175.1:n.1357-133_1357-132insA
NM_001379247.1:c.1357-133_1357-132insA NP_001366176.1:n.1357-133_1357-132insA