Canonical Allele Identifier: CA2584321440

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387454-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387458_33387460del , CM000681.2:g.33387458_33387460del	GRCh38
NC_000019.9:g.33878364_33878366del , CM000681.1:g.33878364_33878366del	GRCh37
NC_000019.8:g.38570204_38570206del	NCBI36
NG_013358.1:g.139437_139439del
NG_013358.2:g.139437_139439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1435_1437del	ENSP00000468516.4:p.Val479del
ENST00000651901.2:c.1459_1461del	ENSP00000498922.2:p.Val487del
ENST00000698359.1:c.1324_1326del	ENSP00000513682.1:p.Val442del
ENST00000698360.1:c.1420_1422del	ENSP00000513683.1:p.Val474del
ENST00000698361.1:c.1485_1487del	ENSP00000513684.1:p.Trp495Ter
ENST00000698362.1:c.*506_*508del	ENSP00000513685.1:n.*506_*508del
ENST00000698426.1:c.1048_1050del	ENSP00000513713.1:p.Val350del
ENST00000698427.1:c.1411_1413del	ENSP00000513714.1:p.Val471del
ENST00000698428.1:c.1048_1050del	ENSP00000513715.1:p.Val350del
ENST00000698429.1:n.1252_1254del
ENST00000698430.1:c.1619_1621del
ENST00000698431.1:c.1106_1108del	ENSP00000513717.1:n.1106_1108del
ENST00000698432.1:c.1178_1180del
ENST00000698433.1:n.831_833del
ENST00000244137.12:c.1369_1371del MANE Select	ENSP00000244137.5:p.Val457del
ENST00000588328.6:c.1424_1426del
ENST00000651901.1:c.1455_1457del
ENST00000244137.11:c.1369_1371del	ENSP00000244137.5:p.Val457del
ENST00000397032.8:c.1246_1248del	ENSP00000380226.3:p.Val416del
ENST00000436370.7:c.1177_1179del	ENSP00000391890.2:p.Val393del
ENST00000589598.5:n.94_96del
ENST00000591968.1:n.441_443del
ENST00000593085.1:n.1256_1258del
NM_000285.3:c.1369_1371del	NP_000276.2:p.Val457del
NM_001166056.1:c.1246_1248del	NP_001159528.1:p.Val416del
NM_001166057.1:c.1177_1179del	NP_001159529.1:p.Val393del
NM_000285.4:c.1369_1371del MANE Select	NP_000276.2:p.Val457del
NM_001166056.2:c.1246_1248del	NP_001159528.1:p.Val416del
NM_001166057.2:c.1177_1179del	NP_001159529.1:p.Val393del