Canonical Allele Identifier: CA2584321439

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387448-T-TGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387453_33387456dup , CM000681.2:g.33387453_33387456dup	GRCh38
NC_000019.9:g.33878359_33878362dup , CM000681.1:g.33878359_33878362dup	GRCh37
NC_000019.8:g.38570199_38570202dup	NCBI36
NG_013358.1:g.139442_139445dup
NG_013358.2:g.139442_139445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1440_1443dup	ENSP00000468516.4:p.Ser482Ter
ENST00000651901.2:c.1464_1467dup	ENSP00000498922.2:p.Ser490Ter
ENST00000698359.1:c.1329_1332dup	ENSP00000513682.1:p.Ser445Ter
ENST00000698360.1:c.1425_1428dup	ENSP00000513683.1:p.Ser477Ter
ENST00000698361.1:c.*2_*5dup	ENSP00000513684.1:n.*2_*5dup
ENST00000698362.1:c.*511_*514dup	ENSP00000513685.1:n.*511_*514dup
ENST00000698426.1:c.1053_1056dup	ENSP00000513713.1:p.Ser353Ter
ENST00000698427.1:c.1416_1419dup	ENSP00000513714.1:p.Ser474Ter
ENST00000698428.1:c.1053_1056dup	ENSP00000513715.1:p.Ser353Ter
ENST00000698429.1:n.1257_1260dup
ENST00000698430.1:c.1624_1627dup
ENST00000698431.1:c.1111_1114dup	ENSP00000513717.1:n.1111_1114dup
ENST00000698432.1:c.1183_1186dup
ENST00000698433.1:n.836_839dup
ENST00000244137.12:c.1374_1377dup MANE Select	ENSP00000244137.5:p.Ser460Ter
ENST00000588328.6:c.1429_1432dup
ENST00000651901.1:c.1460_1463dup
ENST00000244137.11:c.1374_1377dup	ENSP00000244137.5:p.Ser460Ter
ENST00000397032.8:c.1251_1254dup	ENSP00000380226.3:p.Ser419Ter
ENST00000436370.7:c.1182_1185dup	ENSP00000391890.2:p.Ser396Ter
ENST00000589598.5:n.99_102dup
ENST00000591968.1:n.446_449dup
ENST00000593085.1:n.1261_1264dup
NM_000285.3:c.1374_1377dup	NP_000276.2:p.Ser460Ter
NM_001166056.1:c.1251_1254dup	NP_001159528.1:p.Ser419Ter
NM_001166057.1:c.1182_1185dup	NP_001159529.1:p.Ser396Ter
NM_000285.4:c.1374_1377dup MANE Select	NP_000276.2:p.Ser460Ter
NM_001166056.2:c.1251_1254dup	NP_001159528.1:p.Ser419Ter
NM_001166057.2:c.1182_1185dup	NP_001159529.1:p.Ser396Ter