Canonical Allele Identifier: CA2584327840

Gene: PEPD

Linked Data

• gnomAD v4: 19-33521746-GGTGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521748_33521753del , CM000681.2:g.33521748_33521753del	GRCh38
NC_000019.9:g.34012654_34012659del , CM000681.1:g.34012654_34012659del	GRCh37
NC_000019.8:g.38704494_38704499del	NCBI36
NG_013358.1:g.5142_5147del
NG_013358.2:g.5142_5147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.9_14del	ENSP00000468516.4:p.Ala4_Thr5del
ENST00000651646.2:c.9_14del	ENSP00000498950.2:p.Ala4_Thr5del
ENST00000651901.2:c.9_14del	ENSP00000498922.2:p.Ala4_Thr5del
ENST00000698359.1:c.9_14del	ENSP00000513682.1:p.Ala4_Thr5del
ENST00000698360.1:c.9_14del	ENSP00000513683.1:p.Ala4_Thr5del
ENST00000698361.1:c.9_14del	ENSP00000513684.1:p.Ala4_Thr5del
ENST00000698362.1:c.9_14del	ENSP00000513685.1:p.Ala4_Thr5del
ENST00000698363.1:n.72_77del
ENST00000698364.1:n.72_77del
ENST00000698365.1:n.72_77del
ENST00000698426.1:c.-507_-502del	ENSP00000513713.1:n.-507_-502del
ENST00000698427.1:c.-57_-52del	ENSP00000513714.1:n.-57_-52del
ENST00000698428.1:c.-385_-380del	ENSP00000513715.1:n.-385_-380del
ENST00000698435.1:c.9_14del	ENSP00000513719.1:p.Ala4_Thr5del
ENST00000698436.1:c.9_14del	ENSP00000513720.1:p.Ala4_Thr5del
ENST00000244137.12:c.9_14del MANE Select	ENSP00000244137.5:p.Ala4_Thr5del
ENST00000651646.1:c.7_12del
ENST00000651901.1:c.5_10del
ENST00000244137.11:c.9_14del	ENSP00000244137.5:p.Ala4_Thr5del
ENST00000397032.8:c.9_14del	ENSP00000380226.3:p.Ala4_Thr5del
ENST00000436370.7:c.9_14del	ENSP00000391890.2:p.Ala4_Thr5del
NM_000285.3:c.9_14del	NP_000276.2:p.Ala4_Thr5del
NM_001166056.1:c.9_14del	NP_001159528.1:p.Ala4_Thr5del
NM_001166057.1:c.9_14del	NP_001159529.1:p.Ala4_Thr5del
NM_000285.4:c.9_14del MANE Select	NP_000276.2:p.Ala4_Thr5del
NM_001166056.2:c.9_14del	NP_001159528.1:p.Ala4_Thr5del
NM_001166057.2:c.9_14del	NP_001159529.1:p.Ala4_Thr5del