Canonical Allele Identifier: CA2584321436

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387364-GGGTAAAGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387365_33387374del , CM000681.2:g.33387365_33387374del	GRCh38
NC_000019.9:g.33878271_33878280del , CM000681.1:g.33878271_33878280del	GRCh37
NC_000019.8:g.38570111_38570120del	NCBI36
NG_013358.1:g.139520_139529del
NG_013358.2:g.139520_139529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1518_1527del	ENSP00000468516.4:p.Lys506AsnfsTer?
ENST00000651901.2:c.1542_1551del	ENSP00000498922.2:p.Lys514AsnfsTer?
ENST00000698359.1:c.1407_1416del	ENSP00000513682.1:p.Lys469AsnfsTer?
ENST00000698360.1:c.1503_1512del	ENSP00000513683.1:p.Lys501AsnfsTer?
ENST00000698361.1:c.*80_*89del	ENSP00000513684.1:n.*80_*89del
ENST00000698362.1:c.*589_*598del	ENSP00000513685.1:n.*589_*598del
ENST00000698426.1:c.1131_1140del	ENSP00000513713.1:p.Lys377AsnfsTer?
ENST00000698427.1:c.1494_1503del	ENSP00000513714.1:p.Lys498AsnfsTer?
ENST00000698428.1:c.1131_1140del	ENSP00000513715.1:p.Lys377AsnfsTer?
ENST00000698429.1:n.1335_1344del
ENST00000698430.1:c.1702_1711del
ENST00000698431.1:c.1189_1198del	ENSP00000513717.1:n.1189_1198del
ENST00000698432.1:c.1261_1270del
ENST00000698433.1:n.914_923del
ENST00000244137.12:c.1452_1461del MANE Select	ENSP00000244137.5:p.Lys484AsnfsTer?
ENST00000588328.6:c.1507_1516del
ENST00000651901.1:c.1538_1547del
ENST00000244137.11:c.1452_1461del	ENSP00000244137.5:p.Lys484AsnfsTer?
ENST00000397032.8:c.1329_1338del	ENSP00000380226.3:p.Lys443AsnfsTer?
ENST00000436370.7:c.1260_1269del	ENSP00000391890.2:p.Lys420AsnfsTer?
ENST00000589598.5:n.177_186del
ENST00000591968.1:n.524_533del
ENST00000593085.1:n.1339_1348del
NM_000285.3:c.1452_1461del	NP_000276.2:p.Lys484AsnfsTer?
NM_001166056.1:c.1329_1338del	NP_001159528.1:p.Lys443AsnfsTer?
NM_001166057.1:c.1260_1269del	NP_001159529.1:p.Lys420AsnfsTer?
NM_000285.4:c.1452_1461del MANE Select	NP_000276.2:p.Lys484AsnfsTer?
NM_001166056.2:c.1329_1338del	NP_001159528.1:p.Lys443AsnfsTer?
NM_001166057.2:c.1260_1269del	NP_001159529.1:p.Lys420AsnfsTer?