Canonical Allele Identifier: CA2332698649
Gene: PEPD HGNC NCBI

Linked Data

dbSNP Id: rs1968105914

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387589_33387590del , CM000681.2:g.33387589_33387590del GRCh38
NC_000019.9:g.33878495_33878496del , CM000681.1:g.33878495_33878496del GRCh37
NC_000019.8:g.38570335_38570336del NCBI36
NG_013358.1:g.139306_139307del
NG_013358.2:g.139306_139307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1411-107_1411-106del ENSP00000468516.4:n.1411-107_1411-106del
ENST00000651901.2:c.1434+67_1434+68del ENSP00000498922.2:n.1434+67_1434+68del
ENST00000698359.1:c.1300-107_1300-106del ENSP00000513682.1:n.1300-107_1300-106del
ENST00000698360.1:c.1396-107_1396-106del ENSP00000513683.1:n.1396-107_1396-106del
ENST00000698361.1:c.1461-107_1461-106del ENSP00000513684.1:n.1461-107_1461-106del
ENST00000698362.1:c.*375_*376del ENSP00000513685.1:n.*375_*376del
ENST00000698426.1:c.1024-107_1024-106del ENSP00000513713.1:n.1024-107_1024-106del
ENST00000698427.1:c.1387-107_1387-106del ENSP00000513714.1:n.1387-107_1387-106del
ENST00000698428.1:c.1024-107_1024-106del ENSP00000513715.1:n.1024-107_1024-106del
ENST00000698429.1:n.1228-107_1228-106del
ENST00000698430.1:c.1595-107_1595-106del
ENST00000698431.1:c.1082-107_1082-106del ENSP00000513717.1:n.1082-107_1082-106del
ENST00000698432.1:c.1154-107_1154-106del
ENST00000698433.1:n.807-107_807-106del
ENST00000244137.12:c.1345-107_1345-106del MANE Select ENSP00000244137.5:n.1345-107_1345-106del
ENST00000588328.6:c.1400-107_1400-106del
ENST00000651901.1:c.1430+67_1430+68del
ENST00000244137.11:c.1345-107_1345-106del ENSP00000244137.5:n.1345-107_1345-106del
ENST00000397032.8:c.1222-107_1222-106del ENSP00000380226.3:n.1222-107_1222-106del
ENST00000436370.7:c.1153-107_1153-106del ENSP00000391890.2:n.1153-107_1153-106del
ENST00000589598.5:n.69+67_69+68del
ENST00000591968.1:n.417-107_417-106del
ENST00000593085.1:n.1232-107_1232-106del
NM_000285.3:c.1345-107_1345-106del NP_000276.2:n.1345-107_1345-106del
NM_001166056.1:c.1222-107_1222-106del NP_001159528.1:n.1222-107_1222-106del
NM_001166057.1:c.1153-107_1153-106del NP_001159529.1:n.1153-107_1153-106del
NM_000285.4:c.1345-107_1345-106del MANE Select NP_000276.2:n.1345-107_1345-106del
NM_001166056.2:c.1222-107_1222-106del NP_001159528.1:n.1222-107_1222-106del
NM_001166057.2:c.1153-107_1153-106del NP_001159529.1:n.1153-107_1153-106del