Canonical Allele Identifier: CA2584324638

Gene: PEPD

Linked Data

• gnomAD v4: 19-33464004-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464006del , CM000681.2:g.33464006del	GRCh38
NC_000019.9:g.33954912del , CM000681.1:g.33954912del	GRCh37
NC_000019.8:g.38646752del	NCBI36
NG_013358.1:g.62889del
NG_013358.2:g.62889del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.606del	ENSP00000468516.4:p.Ser203AlafsTer7
ENST00000651646.2:c.606del	ENSP00000498950.2:p.Ser203AlafsTer7
ENST00000651901.2:c.606del	ENSP00000498922.2:p.Ser203AlafsTer7
ENST00000698359.1:c.561del	ENSP00000513682.1:p.Ser188AlafsTer7
ENST00000698360.1:c.606del	ENSP00000513683.1:p.Ser203AlafsTer7
ENST00000698361.1:c.606del	ENSP00000513684.1:p.Ser203AlafsTer7
ENST00000698362.1:c.606del	ENSP00000513685.1:p.Ser203AlafsTer7
ENST00000698363.1:n.669del
ENST00000698364.1:n.669del
ENST00000698365.1:n.669del
ENST00000698426.1:c.285del	ENSP00000513713.1:p.Ser96AlafsTer7
ENST00000698427.1:c.648del	ENSP00000513714.1:p.Ser217AlafsTer7
ENST00000698428.1:c.285del	ENSP00000513715.1:p.Ser96AlafsTer7
ENST00000698430.1:c.856del
ENST00000698431.1:c.343del	ENSP00000513717.1:n.343del
ENST00000698432.1:c.415del
ENST00000698435.1:c.294del	ENSP00000513719.1:p.Ser99AlafsTer7
ENST00000698436.1:c.*218del	ENSP00000513720.1:n.*218del
ENST00000698437.1:n.589del
ENST00000698438.1:n.588del
ENST00000698439.1:c.463del	ENSP00000513721.1:n.463del
ENST00000244137.12:c.606del MANE Select	ENSP00000244137.5:p.Ser203AlafsTer7
ENST00000588328.6:c.595del
ENST00000590731.6:n.281del
ENST00000651646.1:c.604del
ENST00000651901.1:c.602del
ENST00000244137.11:c.606del	ENSP00000244137.5:p.Ser203AlafsTer7
ENST00000397032.8:c.548+14041del	ENSP00000380226.3:n.548+14041del
ENST00000436370.7:c.414del	ENSP00000391890.2:p.Ser139AlafsTer7
ENST00000588328.5:c.97del
ENST00000588719.5:n.241del
ENST00000590408.1:c.324del
ENST00000590731.5:n.281del
ENST00000590755.6:c.433del	ENSP00000476667.1:n.433del
ENST00000593163.5:n.771del
ENST00000609145.5:c.39del	ENSP00000476514.1:p.Ser14AlafsTer7
NM_000285.3:c.606del	NP_000276.2:p.Ser203AlafsTer7
NM_001166056.1:c.548+14041del	NP_001159528.1:n.548+14041del
NM_001166057.1:c.414del	NP_001159529.1:p.Ser139AlafsTer7
NM_000285.4:c.606del MANE Select	NP_000276.2:p.Ser203AlafsTer7
NM_001166056.2:c.548+14041del	NP_001159528.1:n.548+14041del
NM_001166057.2:c.414del	NP_001159529.1:p.Ser139AlafsTer7