Canonical Allele Identifier: CA2332762986
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33521571_33521572delinsCT , CM000681.2:g.33521571_33521572delinsCT GRCh38
NC_000019.9:g.34012477_34012478delinsCT , CM000681.1:g.34012477_34012478delinsCT GRCh37
NC_000019.8:g.38704317_38704318delinsCT NCBI36
NG_013358.1:g.5322_5323delinsAG
NG_013358.2:g.5322_5323delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.17+172_17+173delinsAG ENSP00000468516.4:n.17+172_17+173delinsAG
ENST00000651646.2:c.17+172_17+173delinsAG ENSP00000498950.2:n.17+172_17+173delinsAG
ENST00000651901.2:c.17+172_17+173delinsAG ENSP00000498922.2:n.17+172_17+173delinsAG
ENST00000698359.1:c.17+172_17+173delinsAG ENSP00000513682.1:n.17+172_17+173delinsAG
ENST00000698360.1:c.17+172_17+173delinsAG ENSP00000513683.1:n.17+172_17+173delinsAG
ENST00000698361.1:c.17+172_17+173delinsAG ENSP00000513684.1:n.17+172_17+173delinsAG
ENST00000698362.1:c.17+172_17+173delinsAG ENSP00000513685.1:n.17+172_17+173delinsAG
ENST00000698363.1:n.80+172_80+173delinsAG
ENST00000698364.1:n.80+172_80+173delinsAG
ENST00000698365.1:n.80+172_80+173delinsAG
ENST00000698426.1:c.-499+172_-499+173delinsAG ENSP00000513713.1:n.-499+172_-499+173delinsAG
ENST00000698427.1:c.59+65_59+66delinsAG ENSP00000513714.1:n.59+65_59+66delinsAG
ENST00000698428.1:c.-305+100_-305+101delinsAG ENSP00000513715.1:n.-305+100_-305+101delinsAG
ENST00000698435.1:c.17+172_17+173delinsAG ENSP00000513719.1:n.17+172_17+173delinsAG
ENST00000698436.1:c.17+172_17+173delinsAG ENSP00000513720.1:n.17+172_17+173delinsAG
ENST00000244137.12:c.17+172_17+173delinsAG MANE Select ENSP00000244137.5:n.17+172_17+173delinsAG
ENST00000588328.6:c.6+172_6+173delinsAG
ENST00000651646.1:c.15+172_15+173delinsAG
ENST00000651901.1:c.13+172_13+173delinsAG
ENST00000244137.11:c.17+172_17+173delinsAG ENSP00000244137.5:n.17+172_17+173delinsAG
ENST00000397032.8:c.17+172_17+173delinsAG ENSP00000380226.3:n.17+172_17+173delinsAG
ENST00000436370.7:c.17+172_17+173delinsAG ENSP00000391890.2:n.17+172_17+173delinsAG
NM_000285.3:c.17+172_17+173delinsAG NP_000276.2:n.17+172_17+173delinsAG
NM_001166056.1:c.17+172_17+173delinsAG NP_001159528.1:n.17+172_17+173delinsAG
NM_001166057.1:c.17+172_17+173delinsAG NP_001159529.1:n.17+172_17+173delinsAG
NM_000285.4:c.17+172_17+173delinsAG MANE Select NP_000276.2:n.17+172_17+173delinsAG
NM_001166056.2:c.17+172_17+173delinsAG NP_001159528.1:n.17+172_17+173delinsAG
NM_001166057.2:c.17+172_17+173delinsAG NP_001159529.1:n.17+172_17+173delinsAG