Canonical Allele Identifier: CA256719

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 13105
• ClinVar RCV Id: RCV000013984 ; RCV003887866
• dbSNP Id: rs730880317
• gnomAD v4: 4-660484-GC-G
• MyVariant Identifiers: chr4:g.654276del (hg19) ; chr4:g.660487del (hg38)
• PubMed: PMID:8394174 ; PMID:29472945

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660487del , CM000666.2:g.660487del	GRCh38
NC_000004.11:g.654276del , CM000666.1:g.654276del	GRCh37
NC_000004.10:g.644276del	NCBI36
NG_009839.1:g.39914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.1488del MANE Select	ENSP00000420295.1:p.Thr497ProfsTer?
ENST00000255622.10:c.1488del	ENSP00000255622.6:p.Thr497ProfsTer?
ENST00000429163.6:c.651del	ENSP00000406334.2:p.Thr218ProfsTer?
ENST00000496514.5:c.1488del	ENSP00000420295.1:p.Thr497ProfsTer?
NM_000283.3:c.1488del	NP_000274.2:p.Thr497ProfsTer?
NM_001145291.1:c.1488del	NP_001138763.1:p.Thr497ProfsTer?
NM_001145292.1:c.651del	NP_001138764.1:p.Thr218ProfsTer?
XM_011513473.1:c.1707del	XP_011511775.1:p.Thr570ProfsTer?
XM_011513474.1:c.1707del	XP_011511776.1:p.Thr570ProfsTer?
XM_011513475.1:c.1488del	XP_011511777.1:p.Thr497ProfsTer?
XM_011513476.1:c.1707del	XP_011511778.1:p.Thr570ProfsTer?
XM_011513477.1:c.693del	XP_011511779.1:p.Thr232ProfsTer?
XM_011513478.1:c.417del	XP_011511780.1:p.Thr140ProfsTer?
NM_001350154.1:c.651del	NP_001337083.1:p.Thr218ProfsTer?
NM_001350155.1:c.333del	NP_001337084.1:p.Thr112ProfsTer?
XM_011513473.3:c.1707del	XP_011511775.1:p.Thr570ProfsTer?
XM_011513474.3:c.1707del	XP_011511776.1:p.Thr570ProfsTer?
XM_011513475.2:c.1488del	XP_011511777.1:p.Thr497ProfsTer?
XM_011513476.3:c.1707del	XP_011511778.1:p.Thr570ProfsTer?
XM_011513478.2:c.417del	XP_011511780.1:p.Thr140ProfsTer?
XM_017008284.1:c.651del	XP_016863773.1:p.Thr218ProfsTer?
XM_017008285.1:c.651del	XP_016863774.1:p.Thr218ProfsTer?
XM_017008286.1:c.651del	XP_016863775.1:p.Thr218ProfsTer?
NM_001350154.2:c.651del	NP_001337083.1:p.Thr218ProfsTer?
NM_001350155.2:c.333del	NP_001337084.1:p.Thr112ProfsTer?
NM_000283.4:c.1488del MANE Select	NP_000274.3:p.Thr497ProfsTer?
NM_001145291.2:c.1488del	NP_001138763.2:p.Thr497ProfsTer?
NM_001145292.2:c.651del	NP_001138764.2:p.Thr218ProfsTer?
NM_001350154.3:c.651del	NP_001337083.1:p.Thr218ProfsTer?
NM_001350155.3:c.333del	NP_001337084.1:p.Thr112ProfsTer?
NM_001379246.1:c.651del	NP_001366175.1:p.Thr218ProfsTer?
NM_001379247.1:c.651del	NP_001366176.1:p.Thr218ProfsTer?