Canonical Allele Identifier: CA2584324639
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33464008_33464011del , CM000681.2:g.33464008_33464011del GRCh38
NC_000019.9:g.33954914_33954917del , CM000681.1:g.33954914_33954917del GRCh37
NC_000019.8:g.38646754_38646757del NCBI36
NG_013358.1:g.62883_62886del
NG_013358.2:g.62883_62886del

Transcript Alleles

HGVS Amino-acid change
ENST00000588328.7:c.600_603del ENSP00000468516.4:p.Lys200AsnfsTer9
ENST00000651646.2:c.600_603del ENSP00000498950.2:p.Lys200AsnfsTer9
ENST00000651901.2:c.600_603del ENSP00000498922.2:p.Lys200AsnfsTer9
ENST00000698359.1:c.555_558del ENSP00000513682.1:p.Lys185AsnfsTer9
ENST00000698360.1:c.600_603del ENSP00000513683.1:p.Lys200AsnfsTer9
ENST00000698361.1:c.600_603del ENSP00000513684.1:p.Lys200AsnfsTer9
ENST00000698362.1:c.600_603del ENSP00000513685.1:p.Lys200AsnfsTer9
ENST00000698363.1:n.663_666del
ENST00000698364.1:n.663_666del
ENST00000698365.1:n.663_666del
ENST00000698426.1:c.279_282del ENSP00000513713.1:p.Lys93AsnfsTer9
ENST00000698427.1:c.642_645del ENSP00000513714.1:p.Lys214AsnfsTer9
ENST00000698428.1:c.279_282del ENSP00000513715.1:p.Lys93AsnfsTer9
ENST00000698430.1:c.850_853del
ENST00000698431.1:c.337_340del ENSP00000513717.1:n.337_340del
ENST00000698432.1:c.409_412del
ENST00000698435.1:c.288_291del ENSP00000513719.1:p.Lys96AsnfsTer9
ENST00000698436.1:c.*212_*215del ENSP00000513720.1:n.*212_*215del
ENST00000698437.1:n.583_586del
ENST00000698438.1:n.582_585del
ENST00000698439.1:c.457_460del ENSP00000513721.1:n.457_460del
ENST00000244137.12:c.600_603del MANE Select ENSP00000244137.5:p.Lys200AsnfsTer9
ENST00000588328.6:c.589_592del
ENST00000590731.6:n.275_278del
ENST00000651646.1:c.598_601del
ENST00000651901.1:c.596_599del
ENST00000244137.11:c.600_603del ENSP00000244137.5:p.Lys200AsnfsTer9
ENST00000397032.8:c.548+14035_548+14038del ENSP00000380226.3:n.548+14035_548+14038de...
ENST00000436370.7:c.408_411del ENSP00000391890.2:p.Lys136AsnfsTer9
ENST00000588328.5:c.91_94del
ENST00000588719.5:n.235_238del
ENST00000590408.1:c.318_321del
ENST00000590731.5:n.275_278del
ENST00000590755.6:c.427_430del ENSP00000476667.1:n.427_430del
ENST00000593163.5:n.765_768del
ENST00000609145.5:c.33_36del ENSP00000476514.1:p.Lys11AsnfsTer9
NM_000285.3:c.600_603del NP_000276.2:p.Lys200AsnfsTer9
NM_001166056.1:c.548+14035_548+14038del NP_001159528.1:n.548+14035_548+14038del
NM_001166057.1:c.408_411del NP_001159529.1:p.Lys136AsnfsTer9
NM_000285.4:c.600_603del MANE Select NP_000276.2:p.Lys200AsnfsTer9
NM_001166056.2:c.548+14035_548+14038del NP_001159528.1:n.548+14035_548+14038del
NM_001166057.2:c.408_411del NP_001159529.1:p.Lys136AsnfsTer9