Canonical Allele Identifier: CA256722

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 13108
• ClinVar RCV Id: RCV000013987 ; RCV003669100
• dbSNP Id: rs1553801591
• gnomAD v4: 4-625794-C-CACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCT
• MyVariant Identifiers: chr4:g.619584_619654dup (hg19) ; chr4:g.619584_619654dup71 (hg19) ; chr4:g.625795_625865dup (hg38) ; chr4:g.625795_625865dup71 (hg38)
• PubMed: PMID:7599633 ; PMID:29472945

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625795_625865dup , CM000666.2:g.625795_625865dup	GRCh38
NC_000004.11:g.619584_619654dup , CM000666.1:g.619584_619654dup	GRCh37
NC_000004.10:g.609584_609654dup	NCBI36
NG_009839.1:g.5222_5292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.169_239dup MANE Select	ENSP00000420295.1:p.Leu83CysfsTer?
ENST00000255622.10:c.169_239dup	ENSP00000255622.6:p.Leu83CysfsTer?
ENST00000496514.5:c.169_239dup	ENSP00000420295.1:p.Leu83CysfsTer?
NM_000283.3:c.169_239dup	NP_000274.2:p.Leu83CysfsTer?
NM_001145291.1:c.169_239dup	NP_001138763.1:p.Leu83CysfsTer?
XM_011513473.1:c.388_458dup	XP_011511775.1:p.Leu156CysfsTer?
XM_011513474.1:c.388_458dup	XP_011511776.1:p.Leu156CysfsTer?
XM_011513475.1:c.169_239dup	XP_011511777.1:p.Leu83CysfsTer?
XM_011513476.1:c.388_458dup	XP_011511778.1:p.Leu156CysfsTer?
XM_011513473.3:c.388_458dup	XP_011511775.1:p.Leu156CysfsTer?
XM_011513474.3:c.388_458dup	XP_011511776.1:p.Leu156CysfsTer?
XM_011513475.2:c.169_239dup	XP_011511777.1:p.Leu83CysfsTer?
XM_011513476.3:c.388_458dup	XP_011511778.1:p.Leu156CysfsTer?
NM_000283.4:c.169_239dup MANE Select	NP_000274.3:p.Leu83CysfsTer?
NM_001145291.2:c.169_239dup	NP_001138763.2:p.Leu83CysfsTer?