Canonical Allele Identifier: CA2584327759

Gene: PEPD

Linked Data

• gnomAD v4: 19-33521683-C-CCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521684_33521686dup , CM000681.2:g.33521684_33521686dup	GRCh38
NC_000019.9:g.34012590_34012592dup , CM000681.1:g.34012590_34012592dup	GRCh37
NC_000019.8:g.38704430_38704432dup	NCBI36
NG_013358.1:g.5208_5210dup
NG_013358.2:g.5208_5210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.17+58_17+60dup	ENSP00000468516.4:n.17+58_17+60dup
ENST00000651646.2:c.17+58_17+60dup	ENSP00000498950.2:n.17+58_17+60dup
ENST00000651901.2:c.17+58_17+60dup	ENSP00000498922.2:n.17+58_17+60dup
ENST00000698359.1:c.17+58_17+60dup	ENSP00000513682.1:n.17+58_17+60dup
ENST00000698360.1:c.17+58_17+60dup	ENSP00000513683.1:n.17+58_17+60dup
ENST00000698361.1:c.17+58_17+60dup	ENSP00000513684.1:n.17+58_17+60dup
ENST00000698362.1:c.17+58_17+60dup	ENSP00000513685.1:n.17+58_17+60dup
ENST00000698363.1:n.80+58_80+60dup
ENST00000698364.1:n.80+58_80+60dup
ENST00000698365.1:n.80+58_80+60dup
ENST00000698426.1:c.-499+58_-499+60dup	ENSP00000513713.1:n.-499+58_-499+60dup
ENST00000698427.1:c.10_12dup	ENSP00000513714.1:p.Pro4_Ala5insPro
ENST00000698428.1:c.-319_-317dup	ENSP00000513715.1:n.-319_-317dup
ENST00000698435.1:c.17+58_17+60dup	ENSP00000513719.1:n.17+58_17+60dup
ENST00000698436.1:c.17+58_17+60dup	ENSP00000513720.1:n.17+58_17+60dup
ENST00000244137.12:c.17+58_17+60dup MANE Select	ENSP00000244137.5:n.17+58_17+60dup
ENST00000588328.6:c.6+58_6+60dup
ENST00000651646.1:c.15+58_15+60dup
ENST00000651901.1:c.13+58_13+60dup
ENST00000244137.11:c.17+58_17+60dup	ENSP00000244137.5:n.17+58_17+60dup
ENST00000397032.8:c.17+58_17+60dup	ENSP00000380226.3:n.17+58_17+60dup
ENST00000436370.7:c.17+58_17+60dup	ENSP00000391890.2:n.17+58_17+60dup
NM_000285.3:c.17+58_17+60dup	NP_000276.2:n.17+58_17+60dup
NM_001166056.1:c.17+58_17+60dup	NP_001159528.1:n.17+58_17+60dup
NM_001166057.1:c.17+58_17+60dup	NP_001159529.1:n.17+58_17+60dup
NM_000285.4:c.17+58_17+60dup MANE Select	NP_000276.2:n.17+58_17+60dup
NM_001166056.2:c.17+58_17+60dup	NP_001159528.1:n.17+58_17+60dup
NM_001166057.2:c.17+58_17+60dup	NP_001159529.1:n.17+58_17+60dup