Canonical Allele Identifier: CA913107328

Gene: PDE6B

Linked Data

• dbSNP Id: rs1737179856
• MyVariant Identifiers: chr4:g.655971_655974del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662185_662188del , CM000666.2:g.662185_662188del	GRCh38
NC_000004.11:g.655974_655977del , CM000666.1:g.655974_655977del	GRCh37
NC_000004.10:g.645974_645977del	NCBI36
NG_009839.1:g.41612_41615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1666_1669del MANE Select	ENSP00000420295.1:p.Tyr556ThrfsTer18
ENST00000255622.10:c.1666_1669del	ENSP00000255622.6:p.Tyr556ThrfsTer18
ENST00000429163.6:c.829_832del	ENSP00000406334.2:p.Tyr277ThrfsTer18
ENST00000496514.5:c.1666_1669del	ENSP00000420295.1:p.Tyr556ThrfsTer18
NM_000283.3:c.1666_1669del	NP_000274.2:p.Tyr556ThrfsTer18
NM_001145291.1:c.1666_1669del	NP_001138763.1:p.Tyr556ThrfsTer18
NM_001145292.1:c.829_832del	NP_001138764.1:p.Tyr277ThrfsTer18
XM_011513473.1:c.1885_1888del	XP_011511775.1:p.Tyr629ThrfsTer18
XM_011513474.1:c.1885_1888del	XP_011511776.1:p.Tyr629ThrfsTer18
XM_011513475.1:c.1666_1669del	XP_011511777.1:p.Tyr556ThrfsTer18
XM_011513476.1:c.1885_1888del	XP_011511778.1:p.Tyr629ThrfsTer18
XM_011513477.1:c.871_874del	XP_011511779.1:p.Tyr291ThrfsTer18
XM_011513478.1:c.595_598del	XP_011511780.1:p.Tyr199ThrfsTer18
XR_925029.1:n.358_361del
NM_001350154.1:c.829_832del	NP_001337083.1:p.Tyr277ThrfsTer18
NM_001350155.1:c.511_514del	NP_001337084.1:p.Tyr171ThrfsTer18
XM_011513473.3:c.1885_1888del	XP_011511775.1:p.Tyr629ThrfsTer18
XM_011513474.3:c.1885_1888del	XP_011511776.1:p.Tyr629ThrfsTer18
XM_011513475.2:c.1666_1669del	XP_011511777.1:p.Tyr556ThrfsTer18
XM_011513476.3:c.1885_1888del	XP_011511778.1:p.Tyr629ThrfsTer18
XM_011513478.2:c.595_598del	XP_011511780.1:p.Tyr199ThrfsTer18
XM_017008284.1:c.829_832del	XP_016863773.1:p.Tyr277ThrfsTer18
XM_017008285.1:c.829_832del	XP_016863774.1:p.Tyr277ThrfsTer18
XM_017008286.1:c.829_832del	XP_016863775.1:p.Tyr277ThrfsTer18
NM_001350154.2:c.829_832del	NP_001337083.1:p.Tyr277ThrfsTer18
NM_001350155.2:c.511_514del	NP_001337084.1:p.Tyr171ThrfsTer18
NM_000283.4:c.1666_1669del MANE Select	NP_000274.3:p.Tyr556ThrfsTer18
NM_001145291.2:c.1666_1669del	NP_001138763.2:p.Tyr556ThrfsTer18
NM_001145292.2:c.829_832del	NP_001138764.2:p.Tyr277ThrfsTer18
NM_001350154.3:c.829_832del	NP_001337083.1:p.Tyr277ThrfsTer18
NM_001350155.3:c.511_514del	NP_001337084.1:p.Tyr171ThrfsTer18
NM_001379246.1:c.829_832del	NP_001366175.1:p.Tyr277ThrfsTer18
NM_001379247.1:c.829_832del	NP_001366176.1:p.Tyr277ThrfsTer18