Canonical Allele Identifier: CA2578009890

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662237del , CM000666.2:g.662237del	GRCh38
NC_000004.11:g.656026del , CM000666.1:g.656026del	GRCh37
NC_000004.10:g.646026del	NCBI36
NG_009839.1:g.41664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1718del MANE Select	ENSP00000420295.1:p.Leu573ProfsTer2
ENST00000255622.10:c.1718del	ENSP00000255622.6:p.Leu573ProfsTer2
ENST00000429163.6:c.881del	ENSP00000406334.2:p.Leu294ProfsTer2
ENST00000496514.5:c.1718del	ENSP00000420295.1:p.Leu573ProfsTer2
NM_000283.3:c.1718del	NP_000274.2:p.Leu573ProfsTer2
NM_001145291.1:c.1718del	NP_001138763.1:p.Leu573ProfsTer2
NM_001145292.1:c.881del	NP_001138764.1:p.Leu294ProfsTer2
XM_011513473.1:c.1937del	XP_011511775.1:p.Leu646ProfsTer2
XM_011513474.1:c.1937del	XP_011511776.1:p.Leu646ProfsTer2
XM_011513475.1:c.1718del	XP_011511777.1:p.Leu573ProfsTer2
XM_011513476.1:c.1937del	XP_011511778.1:p.Leu646ProfsTer2
XM_011513477.1:c.923del	XP_011511779.1:p.Leu308ProfsTer2
XM_011513478.1:c.647del	XP_011511780.1:p.Leu216ProfsTer2
XR_925029.1:n.306del
NM_001350154.1:c.881del	NP_001337083.1:p.Leu294ProfsTer2
NM_001350155.1:c.563del	NP_001337084.1:p.Leu188ProfsTer2
XM_011513473.3:c.1937del	XP_011511775.1:p.Leu646ProfsTer2
XM_011513474.3:c.1937del	XP_011511776.1:p.Leu646ProfsTer2
XM_011513475.2:c.1718del	XP_011511777.1:p.Leu573ProfsTer2
XM_011513476.3:c.1937del	XP_011511778.1:p.Leu646ProfsTer2
XM_011513478.2:c.647del	XP_011511780.1:p.Leu216ProfsTer2
XM_017008284.1:c.881del	XP_016863773.1:p.Leu294ProfsTer2
XM_017008285.1:c.881del	XP_016863774.1:p.Leu294ProfsTer2
XM_017008286.1:c.881del	XP_016863775.1:p.Leu294ProfsTer2
NM_001350154.2:c.881del	NP_001337083.1:p.Leu294ProfsTer2
NM_001350155.2:c.563del	NP_001337084.1:p.Leu188ProfsTer2
NM_000283.4:c.1718del MANE Select	NP_000274.3:p.Leu573ProfsTer2
NM_001145291.2:c.1718del	NP_001138763.2:p.Leu573ProfsTer2
NM_001145292.2:c.881del	NP_001138764.2:p.Leu294ProfsTer2
NM_001350154.3:c.881del	NP_001337083.1:p.Leu294ProfsTer2
NM_001350155.3:c.563del	NP_001337084.1:p.Leu188ProfsTer2
NM_001379246.1:c.881del	NP_001366175.1:p.Leu294ProfsTer2
NM_001379247.1:c.881del	NP_001366176.1:p.Leu294ProfsTer2