Canonical Allele Identifier: CA2332698513
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387347_33387351delinsCTTGG , CM000681.2:g.33387347_33387351delinsCTTGG GRCh38
NC_000019.9:g.33878253_33878257delinsCTTGG , CM000681.1:g.33878253_33878257delinsCTTGG GRCh37
NC_000019.8:g.38570093_38570097delinsCTTGG NCBI36
NG_013358.1:g.139543_139547delinsCCAAG
NG_013358.2:g.139543_139547delinsCCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1541_1545delinsCCAAG ENSP00000468516.4:p.Pro514=
ENST00000651901.2:c.1565_1569delinsCCAAG ENSP00000498922.2:p.Pro522=
ENST00000698359.1:c.1430_1434delinsCCAAG ENSP00000513682.1:p.Pro477=
ENST00000698360.1:c.1526_1530delinsCCAAG ENSP00000513683.1:p.Pro509=
ENST00000698361.1:c.*103_*107delinsCCAAG ENSP00000513684.1:n.*103_*107delinsCCAAG
ENST00000698362.1:c.*612_*616delinsCCAAG ENSP00000513685.1:n.*612_*616delinsCCAAG
ENST00000698426.1:c.1154_1158delinsCCAAG ENSP00000513713.1:p.Pro385=
ENST00000698427.1:c.1517_1521delinsCCAAG ENSP00000513714.1:p.Pro506=
ENST00000698428.1:c.1154_1158delinsCCAAG ENSP00000513715.1:p.Pro385=
ENST00000698429.1:n.1358_1362delinsCCAAG
ENST00000698430.1:c.1725_1729delinsCCAAG
ENST00000698431.1:c.1212_1216delinsCCAAG ENSP00000513717.1:n.1212_1216delinsCCAAG
ENST00000698432.1:c.1284_1288delinsCCAAG
ENST00000244137.12:c.1475_1479delinsCCAAG MANE Select ENSP00000244137.5:p.Pro492=
ENST00000588328.6:c.1530_1534delinsCCAAG
ENST00000651901.1:c.1561_1565delinsCCAAG
ENST00000244137.11:c.1475_1479delinsCCAAG ENSP00000244137.5:p.Pro492=
ENST00000397032.8:c.1352_1356delinsCCAAG ENSP00000380226.3:p.Pro451=
ENST00000436370.7:c.1283_1287delinsCCAAG ENSP00000391890.2:p.Pro428=
ENST00000589598.5:n.200_204delinsCCAAG
ENST00000591968.1:n.547_551delinsCCAAG
ENST00000593085.1:n.1362_1366delinsCCAAG
NM_000285.3:c.1475_1479delinsCCAAG NP_000276.2:p.Pro492=
NM_001166056.1:c.1352_1356delinsCCAAG NP_001159528.1:p.Pro451=
NM_001166057.1:c.1283_1287delinsCCAAG NP_001159529.1:p.Pro428=
NM_000285.4:c.1475_1479delinsCCAAG MANE Select NP_000276.2:p.Pro492=
NM_001166056.2:c.1352_1356delinsCCAAG NP_001159528.1:p.Pro451=
NM_001166057.2:c.1283_1287delinsCCAAG NP_001159529.1:p.Pro428=