Canonical Allele Identifier: CA9364104

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1327989
• ClinVar RCV Id: RCV002034648
• dbSNP Id: rs750548522
• ExAC: 19:33892768 CG / C
• gnomAD v2: 19-33892768-CG-C
• gnomAD v3: 19-33401862-CG-C
• gnomAD v4: 19-33401862-CG-C
• MyVariant Identifiers: chr19:g.33892769del (hg19) ; chr19:g.33401863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401863del , CM000681.2:g.33401863del	GRCh38
NC_000019.9:g.33892769del , CM000681.1:g.33892769del	GRCh37
NC_000019.8:g.38584609del	NCBI36
NG_013358.1:g.125031del
NG_013358.2:g.125031del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.825del	ENSP00000468516.4:p.Phe275LeufsTer?
ENST00000651901.2:c.825del	ENSP00000498922.2:p.Phe275LeufsTer?
ENST00000698359.1:c.780del	ENSP00000513682.1:p.Phe260LeufsTer?
ENST00000698360.1:c.876del	ENSP00000513683.1:p.Phe292LeufsTer?
ENST00000698361.1:c.825del	ENSP00000513684.1:p.Phe275LeufsTer?
ENST00000698362.1:c.825del	ENSP00000513685.1:p.Phe275LeufsTer?
ENST00000698363.1:n.888del
ENST00000698364.1:n.888del
ENST00000698365.1:n.888del
ENST00000698426.1:c.504del	ENSP00000513713.1:p.Phe168LeufsTer?
ENST00000698427.1:c.867del	ENSP00000513714.1:p.Phe289LeufsTer?
ENST00000698428.1:c.504del	ENSP00000513715.1:p.Phe168LeufsTer?
ENST00000698429.1:n.708del
ENST00000698430.1:c.1075del
ENST00000698431.1:c.562del	ENSP00000513717.1:n.562del
ENST00000698432.1:c.634del
ENST00000698433.1:n.287del
ENST00000698434.1:n.312del
ENST00000698435.1:c.513del	ENSP00000513719.1:p.Phe171LeufsTer?
ENST00000244137.12:c.825del MANE Select	ENSP00000244137.5:p.Phe275LeufsTer?
ENST00000588328.6:c.814del
ENST00000590731.6:n.500del
ENST00000651901.1:c.821del
ENST00000244137.11:c.825del	ENSP00000244137.5:p.Phe275LeufsTer?
ENST00000397032.8:c.702del	ENSP00000380226.3:p.Phe234LeufsTer?
ENST00000436370.7:c.633del	ENSP00000391890.2:p.Phe211LeufsTer?
ENST00000588328.5:c.316del
ENST00000588719.5:n.460del
ENST00000590731.5:n.500del
ENST00000593163.5:n.990del
ENST00000609145.5:c.258del	ENSP00000476514.1:p.Phe86LeufsTer?
NM_000285.3:c.825del	NP_000276.2:p.Phe275LeufsTer?
NM_001166056.1:c.702del	NP_001159528.1:p.Phe234LeufsTer?
NM_001166057.1:c.633del	NP_001159529.1:p.Phe211LeufsTer?
NM_000285.4:c.825del MANE Select	NP_000276.2:p.Phe275LeufsTer?
NM_001166056.2:c.702del	NP_001159528.1:p.Phe234LeufsTer?
NM_001166057.2:c.633del	NP_001159529.1:p.Phe211LeufsTer?