Canonical Allele Identifier: CA2332698574

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387464_33387467delinsGTCC , CM000681.2:g.33387464_33387467delinsGTCC	GRCh38
NC_000019.9:g.33878370_33878373delinsGTCC , CM000681.1:g.33878370_33878373delinsGTCC	GRCh37
NC_000019.8:g.38570210_38570213delinsGTCC	NCBI36
NG_013358.1:g.139427_139430delinsGGAC
NG_013358.2:g.139427_139430delinsGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1425_1428delinsGGAC	ENSP00000468516.4:p.Glu475=
ENST00000651901.2:c.1449_1452delinsGGAC	ENSP00000498922.2:p.Glu483=
ENST00000698359.1:c.1314_1317delinsGGAC	ENSP00000513682.1:p.Glu438=
ENST00000698360.1:c.1410_1413delinsGGAC	ENSP00000513683.1:p.Glu470=
ENST00000698361.1:c.1475_1478delinsGGAC	ENSP00000513684.1:p.Arg492=
ENST00000698362.1:c.*496_*499delinsGGAC	ENSP00000513685.1:n.*496_*499delinsGGAC
ENST00000698426.1:c.1038_1041delinsGGAC	ENSP00000513713.1:p.Glu346=
ENST00000698427.1:c.1401_1404delinsGGAC	ENSP00000513714.1:p.Glu467=
ENST00000698428.1:c.1038_1041delinsGGAC	ENSP00000513715.1:p.Glu346=
ENST00000698429.1:n.1242_1245delinsGGAC
ENST00000698430.1:c.1609_1612delinsGGAC
ENST00000698431.1:c.1096_1099delinsGGAC	ENSP00000513717.1:n.1096_1099delinsGGAC
ENST00000698432.1:c.1168_1171delinsGGAC
ENST00000698433.1:n.821_824delinsGGAC
ENST00000244137.12:c.1359_1362delinsGGAC MANE Select	ENSP00000244137.5:p.Glu453=
ENST00000588328.6:c.1414_1417delinsGGAC
ENST00000651901.1:c.1445_1448delinsGGAC
ENST00000244137.11:c.1359_1362delinsGGAC	ENSP00000244137.5:p.Glu453=
ENST00000397032.8:c.1236_1239delinsGGAC	ENSP00000380226.3:p.Glu412=
ENST00000436370.7:c.1167_1170delinsGGAC	ENSP00000391890.2:p.Glu389=
ENST00000589598.5:n.84_87delinsGGAC
ENST00000591968.1:n.431_434delinsGGAC
ENST00000593085.1:n.1246_1249delinsGGAC
NM_000285.3:c.1359_1362delinsGGAC	NP_000276.2:p.Glu453=
NM_001166056.1:c.1236_1239delinsGGAC	NP_001159528.1:p.Glu412=
NM_001166057.1:c.1167_1170delinsGGAC	NP_001159529.1:p.Glu389=
NM_000285.4:c.1359_1362delinsGGAC MANE Select	NP_000276.2:p.Glu453=
NM_001166056.2:c.1236_1239delinsGGAC	NP_001159528.1:p.Glu412=
NM_001166057.2:c.1167_1170delinsGGAC	NP_001159529.1:p.Glu389=