Canonical Allele Identifier: CA1432859141

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662171_662172delinsAC , CM000666.2:g.662171_662172delinsAC	GRCh38
NC_000004.11:g.655960_655961delinsAC , CM000666.1:g.655960_655961delinsAC	GRCh37
NC_000004.10:g.645960_645961delinsAC	NCBI36
NG_009839.1:g.41598_41599delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1652_1653delinsAC MANE Select	ENSP00000420295.1:p.Tyr551=
ENST00000255622.10:c.1652_1653delinsAC	ENSP00000255622.6:p.Tyr551=
ENST00000429163.6:c.815_816delinsAC	ENSP00000406334.2:p.Tyr272=
ENST00000496514.5:c.1652_1653delinsAC	ENSP00000420295.1:p.Tyr551=
NM_000283.3:c.1652_1653delinsAC	NP_000274.2:p.Tyr551=
NM_001145291.1:c.1652_1653delinsAC	NP_001138763.1:p.Tyr551=
NM_001145292.1:c.815_816delinsAC	NP_001138764.1:p.Tyr272=
XM_011513473.1:c.1871_1872delinsAC	XP_011511775.1:p.Tyr624=
XM_011513474.1:c.1871_1872delinsAC	XP_011511776.1:p.Tyr624=
XM_011513475.1:c.1652_1653delinsAC	XP_011511777.1:p.Tyr551=
XM_011513476.1:c.1871_1872delinsAC	XP_011511778.1:p.Tyr624=
XM_011513477.1:c.857_858delinsAC	XP_011511779.1:p.Tyr286=
XM_011513478.1:c.581_582delinsAC	XP_011511780.1:p.Tyr194=
XR_925029.1:n.371_372delinsGT
NM_001350154.1:c.815_816delinsAC	NP_001337083.1:p.Tyr272=
NM_001350155.1:c.497_498delinsAC	NP_001337084.1:p.Tyr166=
XM_011513473.3:c.1871_1872delinsAC	XP_011511775.1:p.Tyr624=
XM_011513474.3:c.1871_1872delinsAC	XP_011511776.1:p.Tyr624=
XM_011513475.2:c.1652_1653delinsAC	XP_011511777.1:p.Tyr551=
XM_011513476.3:c.1871_1872delinsAC	XP_011511778.1:p.Tyr624=
XM_011513478.2:c.581_582delinsAC	XP_011511780.1:p.Tyr194=
XM_017008284.1:c.815_816delinsAC	XP_016863773.1:p.Tyr272=
XM_017008285.1:c.815_816delinsAC	XP_016863774.1:p.Tyr272=
XM_017008286.1:c.815_816delinsAC	XP_016863775.1:p.Tyr272=
NM_001350154.2:c.815_816delinsAC	NP_001337083.1:p.Tyr272=
NM_001350155.2:c.497_498delinsAC	NP_001337084.1:p.Tyr166=
NM_000283.4:c.1652_1653delinsAC MANE Select	NP_000274.3:p.Tyr551=
NM_001145291.2:c.1652_1653delinsAC	NP_001138763.2:p.Tyr551=
NM_001145292.2:c.815_816delinsAC	NP_001138764.2:p.Tyr272=
NM_001350154.3:c.815_816delinsAC	NP_001337083.1:p.Tyr272=
NM_001350155.3:c.497_498delinsAC	NP_001337084.1:p.Tyr166=
NM_001379246.1:c.815_816delinsAC	NP_001366175.1:p.Tyr272=
NM_001379247.1:c.815_816delinsAC	NP_001366176.1:p.Tyr272=