Canonical Allele Identifier: CA645509144

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 438189
• ClinVar RCV Id: RCV000505033 ; RCV001238372
• dbSNP Id: rs1360937549
• gnomAD v3: 4-660481-A-AG
• gnomAD v4: 4-660481-A-AG
• MyVariant Identifiers: chr4:g.654273dup (hg19) ; chr4:g.654270_654271insG (hg19) ; chr4:g.660484dup (hg38) ; chr4:g.660481_660482insG (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660484dup , CM000666.2:g.660484dup	GRCh38
NC_000004.11:g.654273dup , CM000666.1:g.654273dup	GRCh37
NC_000004.10:g.644273dup	NCBI36
NG_009839.1:g.39911dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1485dup MANE Select	ENSP00000420295.1:p.Pro496AlafsTer5
ENST00000255622.10:c.1485dup	ENSP00000255622.6:p.Pro496AlafsTer5
ENST00000429163.6:c.648dup	ENSP00000406334.2:p.Pro217AlafsTer5
ENST00000496514.5:c.1485dup	ENSP00000420295.1:p.Pro496AlafsTer5
NM_000283.3:c.1485dup	NP_000274.2:p.Pro496AlafsTer5
NM_001145291.1:c.1485dup	NP_001138763.1:p.Pro496AlafsTer5
NM_001145292.1:c.648dup	NP_001138764.1:p.Pro217AlafsTer5
XM_011513473.1:c.1704dup	XP_011511775.1:p.Pro569AlafsTer5
XM_011513474.1:c.1704dup	XP_011511776.1:p.Pro569AlafsTer5
XM_011513475.1:c.1485dup	XP_011511777.1:p.Pro496AlafsTer5
XM_011513476.1:c.1704dup	XP_011511778.1:p.Pro569AlafsTer5
XM_011513477.1:c.690dup	XP_011511779.1:p.Pro231AlafsTer5
XM_011513478.1:c.414dup	XP_011511780.1:p.Pro139AlafsTer5
NM_001350154.1:c.648dup	NP_001337083.1:p.Pro217AlafsTer5
NM_001350155.1:c.330dup	NP_001337084.1:p.Pro111AlafsTer5
XM_011513473.3:c.1704dup	XP_011511775.1:p.Pro569AlafsTer5
XM_011513474.3:c.1704dup	XP_011511776.1:p.Pro569AlafsTer5
XM_011513475.2:c.1485dup	XP_011511777.1:p.Pro496AlafsTer5
XM_011513476.3:c.1704dup	XP_011511778.1:p.Pro569AlafsTer5
XM_011513478.2:c.414dup	XP_011511780.1:p.Pro139AlafsTer5
XM_017008284.1:c.648dup	XP_016863773.1:p.Pro217AlafsTer5
XM_017008285.1:c.648dup	XP_016863774.1:p.Pro217AlafsTer5
XM_017008286.1:c.648dup	XP_016863775.1:p.Pro217AlafsTer5
NM_001350154.2:c.648dup	NP_001337083.1:p.Pro217AlafsTer5
NM_001350155.2:c.330dup	NP_001337084.1:p.Pro111AlafsTer5
NM_000283.4:c.1485dup MANE Select	NP_000274.3:p.Pro496AlafsTer5
NM_001145291.2:c.1485dup	NP_001138763.2:p.Pro496AlafsTer5
NM_001145292.2:c.648dup	NP_001138764.2:p.Pro217AlafsTer5
NM_001350154.3:c.648dup	NP_001337083.1:p.Pro217AlafsTer5
NM_001350155.3:c.330dup	NP_001337084.1:p.Pro111AlafsTer5
NM_001379246.1:c.648dup	NP_001366175.1:p.Pro217AlafsTer5
NM_001379247.1:c.648dup	NP_001366176.1:p.Pro217AlafsTer5