Canonical Allele Identifier: CA2584321441

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387463-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387464_33387465dup , CM000681.2:g.33387464_33387465dup	GRCh38
NC_000019.9:g.33878370_33878371dup , CM000681.1:g.33878370_33878371dup	GRCh37
NC_000019.8:g.38570210_38570211dup	NCBI36
NG_013358.1:g.139429_139430dup
NG_013358.2:g.139429_139430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1427_1428dup	ENSP00000468516.4:p.Val477ThrfsTer4
ENST00000651901.2:c.1451_1452dup	ENSP00000498922.2:p.Val485ThrfsTer4
ENST00000698359.1:c.1316_1317dup	ENSP00000513682.1:p.Val440ThrfsTer4
ENST00000698360.1:c.1412_1413dup	ENSP00000513683.1:p.Val472ThrfsTer4
ENST00000698361.1:c.1477_1478dup	ENSP00000513684.1:p.Ser494ArgfsTer5
ENST00000698362.1:c.*498_*499dup	ENSP00000513685.1:n.*498_*499dup
ENST00000698426.1:c.1040_1041dup	ENSP00000513713.1:p.Val348ThrfsTer4
ENST00000698427.1:c.1403_1404dup	ENSP00000513714.1:p.Val469ThrfsTer4
ENST00000698428.1:c.1040_1041dup	ENSP00000513715.1:p.Val348ThrfsTer4
ENST00000698429.1:n.1244_1245dup
ENST00000698430.1:c.1611_1612dup
ENST00000698431.1:c.1098_1099dup	ENSP00000513717.1:n.1098_1099dup
ENST00000698432.1:c.1170_1171dup
ENST00000698433.1:n.823_824dup
ENST00000244137.12:c.1361_1362dup MANE Select	ENSP00000244137.5:p.Val455ThrfsTer4
ENST00000588328.6:c.1416_1417dup
ENST00000651901.1:c.1447_1448dup
ENST00000244137.11:c.1361_1362dup	ENSP00000244137.5:p.Val455ThrfsTer4
ENST00000397032.8:c.1238_1239dup	ENSP00000380226.3:p.Val414ThrfsTer4
ENST00000436370.7:c.1169_1170dup	ENSP00000391890.2:p.Val391ThrfsTer4
ENST00000589598.5:n.86_87dup
ENST00000591968.1:n.433_434dup
ENST00000593085.1:n.1248_1249dup
NM_000285.3:c.1361_1362dup	NP_000276.2:p.Val455ThrfsTer4
NM_001166056.1:c.1238_1239dup	NP_001159528.1:p.Val414ThrfsTer4
NM_001166057.1:c.1169_1170dup	NP_001159529.1:p.Val391ThrfsTer4
NM_000285.4:c.1361_1362dup MANE Select	NP_000276.2:p.Val455ThrfsTer4
NM_001166056.2:c.1238_1239dup	NP_001159528.1:p.Val414ThrfsTer4
NM_001166057.2:c.1169_1170dup	NP_001159529.1:p.Val391ThrfsTer4