Canonical Allele Identifier: CA995322476

Gene: PEPD

Linked Data

• dbSNP Id: rs1969975609
• gnomAD v3: 19-33464009-AT-A
• gnomAD v4: 19-33464009-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464013del , CM000681.2:g.33464013del	GRCh38
NC_000019.9:g.33954919del , CM000681.1:g.33954919del	GRCh37
NC_000019.8:g.38646759del	NCBI36
NG_013358.1:g.62884del
NG_013358.2:g.62884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.601del	ENSP00000468516.4:p.Ile201SerfsTer9
ENST00000651646.2:c.601del	ENSP00000498950.2:p.Ile201SerfsTer9
ENST00000651901.2:c.601del	ENSP00000498922.2:p.Ile201SerfsTer9
ENST00000698359.1:c.556del	ENSP00000513682.1:p.Ile186SerfsTer9
ENST00000698360.1:c.601del	ENSP00000513683.1:p.Ile201SerfsTer9
ENST00000698361.1:c.601del	ENSP00000513684.1:p.Ile201SerfsTer9
ENST00000698362.1:c.601del	ENSP00000513685.1:p.Ile201SerfsTer9
ENST00000698363.1:n.664del
ENST00000698364.1:n.664del
ENST00000698365.1:n.664del
ENST00000698426.1:c.280del	ENSP00000513713.1:p.Ile94SerfsTer9
ENST00000698427.1:c.643del	ENSP00000513714.1:p.Ile215SerfsTer9
ENST00000698428.1:c.280del	ENSP00000513715.1:p.Ile94SerfsTer9
ENST00000698430.1:c.851del
ENST00000698431.1:c.338del	ENSP00000513717.1:n.338del
ENST00000698432.1:c.410del
ENST00000698435.1:c.289del	ENSP00000513719.1:p.Ile97SerfsTer9
ENST00000698436.1:c.*213del	ENSP00000513720.1:n.*213del
ENST00000698437.1:n.584del
ENST00000698438.1:n.583del
ENST00000698439.1:c.458del	ENSP00000513721.1:n.458del
ENST00000244137.12:c.601del MANE Select	ENSP00000244137.5:p.Ile201SerfsTer9
ENST00000588328.6:c.590del
ENST00000590731.6:n.276del
ENST00000651646.1:c.599del
ENST00000651901.1:c.597del
ENST00000244137.11:c.601del	ENSP00000244137.5:p.Ile201SerfsTer9
ENST00000397032.8:c.548+14036del	ENSP00000380226.3:n.548+14036del
ENST00000436370.7:c.409del	ENSP00000391890.2:p.Ile137SerfsTer9
ENST00000588328.5:c.92del
ENST00000588719.5:n.236del
ENST00000590408.1:c.319del
ENST00000590731.5:n.276del
ENST00000590755.6:c.428del	ENSP00000476667.1:n.428del
ENST00000593163.5:n.766del
ENST00000609145.5:c.34del	ENSP00000476514.1:p.Ile12SerfsTer9
NM_000285.3:c.601del	NP_000276.2:p.Ile201SerfsTer9
NM_001166056.1:c.548+14036del	NP_001159528.1:n.548+14036del
NM_001166057.1:c.409del	NP_001159529.1:p.Ile137SerfsTer9
NM_000285.4:c.601del MANE Select	NP_000276.2:p.Ile201SerfsTer9
NM_001166056.2:c.548+14036del	NP_001159528.1:n.548+14036del
NM_001166057.2:c.409del	NP_001159529.1:p.Ile137SerfsTer9