Canonical Allele Identifier: CA2332706090

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401741_33401755delinsACGGCACGGGAGCTC , CM000681.2:g.33401741_33401755delinsACGGCACGGGAGCTC	GRCh38
NC_000019.9:g.33892647_33892661delinsACGGCACGGGAGCTC , CM000681.1:g.33892647_33892661delinsACGGCACGGGAGCTC	GRCh37
NC_000019.8:g.38584487_38584501delinsACGGCACGGGAGCTC	NCBI36
NG_013358.1:g.125139_125153delinsGAGCTCCCGTGCCGT
NG_013358.2:g.125139_125153delinsGAGCTCCCGTGCCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.933_947delinsGAGCTCCCGTGCCGT	ENSP00000468516.4:p.Arg311=
ENST00000651901.2:c.933_947delinsGAGCTCCCGTGCCGT	ENSP00000498922.2:p.Arg311=
ENST00000698359.1:c.888_902delinsGAGCTCCCGTGCCGT	ENSP00000513682.1:p.Arg296=
ENST00000698360.1:c.984_998delinsGAGCTCCCGTGCCGT	ENSP00000513683.1:p.Arg328=
ENST00000698361.1:c.933_947delinsGAGCTCCCGTGCCGT	ENSP00000513684.1:p.Arg311=
ENST00000698362.1:c.933_947delinsGAGCTCCCGTGCCGT	ENSP00000513685.1:p.Arg311=
ENST00000698363.1:n.996_1010delinsGAGCTCCCGTGCCGT
ENST00000698364.1:n.996_1010delinsGAGCTCCCGTGCCGT
ENST00000698365.1:n.996_1010delinsGAGCTCCCGTGCCGT
ENST00000698426.1:c.612_626delinsGAGCTCCCGTGCCGT	ENSP00000513713.1:p.Arg204=
ENST00000698427.1:c.975_989delinsGAGCTCCCGTGCCGT	ENSP00000513714.1:p.Arg325=
ENST00000698428.1:c.612_626delinsGAGCTCCCGTGCCGT	ENSP00000513715.1:p.Arg204=
ENST00000698429.1:n.816_830delinsGAGCTCCCGTGCCGT
ENST00000698430.1:c.1183_1197delinsGAGCTCCCGTGCCGT
ENST00000698431.1:c.670_684delinsGAGCTCCCGTGCCGT	ENSP00000513717.1:n.670_684delinsGAGCTCCC...
ENST00000698432.1:c.742_756delinsGAGCTCCCGTGCCGT
ENST00000698433.1:n.395_409delinsGAGCTCCCGTGCCGT
ENST00000698434.1:n.420_434delinsGAGCTCCCGTGCCGT
ENST00000244137.12:c.933_947delinsGAGCTCCCGTGCCGT MANE Select	ENSP00000244137.5:p.Arg311=
ENST00000588328.6:c.922_936delinsGAGCTCCCGTGCCGT
ENST00000590731.6:n.608_622delinsGAGCTCCCGTGCCGT
ENST00000651901.1:c.929_943delinsGAGCTCCCGTGCCGT
ENST00000244137.11:c.933_947delinsGAGCTCCCGTGCCGT	ENSP00000244137.5:p.Arg311=
ENST00000397032.8:c.810_824delinsGAGCTCCCGTGCCGT	ENSP00000380226.3:p.Arg270=
ENST00000436370.7:c.741_755delinsGAGCTCCCGTGCCGT	ENSP00000391890.2:p.Arg247=
ENST00000588328.5:c.424_438delinsGAGCTCCCGTGCCGT
NM_000285.3:c.933_947delinsGAGCTCCCGTGCCGT	NP_000276.2:p.Arg311=
NM_001166056.1:c.810_824delinsGAGCTCCCGTGCCGT	NP_001159528.1:p.Arg270=
NM_001166057.1:c.741_755delinsGAGCTCCCGTGCCGT	NP_001159529.1:p.Arg247=
NM_000285.4:c.933_947delinsGAGCTCCCGTGCCGT MANE Select	NP_000276.2:p.Arg311=
NM_001166056.2:c.810_824delinsGAGCTCCCGTGCCGT	NP_001159528.1:p.Arg270=
NM_001166057.2:c.741_755delinsGAGCTCCCGTGCCGT	NP_001159529.1:p.Arg247=