Canonical Allele Identifier: CA2332706149

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401862_33401863delinsCG , CM000681.2:g.33401862_33401863delinsCG	GRCh38
NC_000019.9:g.33892768_33892769delinsCG , CM000681.1:g.33892768_33892769delinsCG	GRCh37
NC_000019.8:g.38584608_38584609delinsCG	NCBI36
NG_013358.1:g.125031_125032delinsCG
NG_013358.2:g.125031_125032delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.825_826delinsCG	ENSP00000468516.4:p.Phe275=
ENST00000651901.2:c.825_826delinsCG	ENSP00000498922.2:p.Phe275=
ENST00000698359.1:c.780_781delinsCG	ENSP00000513682.1:p.Phe260=
ENST00000698360.1:c.876_877delinsCG	ENSP00000513683.1:p.Phe292=
ENST00000698361.1:c.825_826delinsCG	ENSP00000513684.1:p.Phe275=
ENST00000698362.1:c.825_826delinsCG	ENSP00000513685.1:p.Phe275=
ENST00000698363.1:n.888_889delinsCG
ENST00000698364.1:n.888_889delinsCG
ENST00000698365.1:n.888_889delinsCG
ENST00000698426.1:c.504_505delinsCG	ENSP00000513713.1:p.Phe168=
ENST00000698427.1:c.867_868delinsCG	ENSP00000513714.1:p.Phe289=
ENST00000698428.1:c.504_505delinsCG	ENSP00000513715.1:p.Phe168=
ENST00000698429.1:n.708_709delinsCG
ENST00000698430.1:c.1075_1076delinsCG
ENST00000698431.1:c.562_563delinsCG	ENSP00000513717.1:n.562_563delinsCG
ENST00000698432.1:c.634_635delinsCG
ENST00000698433.1:n.287_288delinsCG
ENST00000698434.1:n.312_313delinsCG
ENST00000698435.1:c.513_514delinsCG	ENSP00000513719.1:p.Phe171=
ENST00000244137.12:c.825_826delinsCG MANE Select	ENSP00000244137.5:p.Phe275=
ENST00000588328.6:c.814_815delinsCG
ENST00000590731.6:n.500_501delinsCG
ENST00000651901.1:c.821_822delinsCG
ENST00000244137.11:c.825_826delinsCG	ENSP00000244137.5:p.Phe275=
ENST00000397032.8:c.702_703delinsCG	ENSP00000380226.3:p.Phe234=
ENST00000436370.7:c.633_634delinsCG	ENSP00000391890.2:p.Phe211=
ENST00000588328.5:c.316_317delinsCG
ENST00000588719.5:n.460_461delinsCG
ENST00000590731.5:n.500_501delinsCG
ENST00000593163.5:n.990_991delinsCG
ENST00000609145.5:c.258_259delinsCG	ENSP00000476514.1:p.Phe86=
NM_000285.3:c.825_826delinsCG	NP_000276.2:p.Phe275=
NM_001166056.1:c.702_703delinsCG	NP_001159528.1:p.Phe234=
NM_001166057.1:c.633_634delinsCG	NP_001159529.1:p.Phe211=
NM_000285.4:c.825_826delinsCG MANE Select	NP_000276.2:p.Phe275=
NM_001166056.2:c.702_703delinsCG	NP_001159528.1:p.Phe234=
NM_001166057.2:c.633_634delinsCG	NP_001159529.1:p.Phe211=