Canonical Allele Identifier: CA2586973494

Gene: PDE6B

Linked Data

• gnomAD v4: 4-662152-TTCTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662155_662160del , CM000666.2:g.662155_662160del	GRCh38
NC_000004.11:g.655944_655949del , CM000666.1:g.655944_655949del	GRCh37
NC_000004.10:g.645944_645949del	NCBI36
NG_009839.1:g.41582_41587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1636_1641del MANE Select	ENSP00000420295.1:p.Ser546_Ile547del
ENST00000255622.10:c.1636_1641del	ENSP00000255622.6:p.Ser546_Ile547del
ENST00000429163.6:c.799_804del	ENSP00000406334.2:p.Ser267_Ile268del
ENST00000496514.5:c.1636_1641del	ENSP00000420295.1:p.Ser546_Ile547del
NM_000283.3:c.1636_1641del	NP_000274.2:p.Ser546_Ile547del
NM_001145291.1:c.1636_1641del	NP_001138763.1:p.Ser546_Ile547del
NM_001145292.1:c.799_804del	NP_001138764.1:p.Ser267_Ile268del
XM_011513473.1:c.1855_1860del	XP_011511775.1:p.Ser619_Ile620del
XM_011513474.1:c.1855_1860del	XP_011511776.1:p.Ser619_Ile620del
XM_011513475.1:c.1636_1641del	XP_011511777.1:p.Ser546_Ile547del
XM_011513476.1:c.1855_1860del	XP_011511778.1:p.Ser619_Ile620del
XM_011513477.1:c.841_846del	XP_011511779.1:p.Ser281_Ile282del
XM_011513478.1:c.565_570del	XP_011511780.1:p.Ser189_Ile190del
XR_925029.1:n.385_390del
NM_001350154.1:c.799_804del	NP_001337083.1:p.Ser267_Ile268del
NM_001350155.1:c.481_486del	NP_001337084.1:p.Ser161_Ile162del
XM_011513473.3:c.1855_1860del	XP_011511775.1:p.Ser619_Ile620del
XM_011513474.3:c.1855_1860del	XP_011511776.1:p.Ser619_Ile620del
XM_011513475.2:c.1636_1641del	XP_011511777.1:p.Ser546_Ile547del
XM_011513476.3:c.1855_1860del	XP_011511778.1:p.Ser619_Ile620del
XM_011513478.2:c.565_570del	XP_011511780.1:p.Ser189_Ile190del
XM_017008284.1:c.799_804del	XP_016863773.1:p.Ser267_Ile268del
XM_017008285.1:c.799_804del	XP_016863774.1:p.Ser267_Ile268del
XM_017008286.1:c.799_804del	XP_016863775.1:p.Ser267_Ile268del
NM_001350154.2:c.799_804del	NP_001337083.1:p.Ser267_Ile268del
NM_001350155.2:c.481_486del	NP_001337084.1:p.Ser161_Ile162del
NM_000283.4:c.1636_1641del MANE Select	NP_000274.3:p.Ser546_Ile547del
NM_001145291.2:c.1636_1641del	NP_001138763.2:p.Ser546_Ile547del
NM_001145292.2:c.799_804del	NP_001138764.2:p.Ser267_Ile268del
NM_001350154.3:c.799_804del	NP_001337083.1:p.Ser267_Ile268del
NM_001350155.3:c.481_486del	NP_001337084.1:p.Ser161_Ile162del
NM_001379246.1:c.799_804del	NP_001366175.1:p.Ser267_Ile268del
NM_001379247.1:c.799_804del	NP_001366176.1:p.Ser267_Ile268del