Canonical Allele Identifier: CA2532896601
Gene: PEPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33401584_33401585insGGAGCTTGACCAGCGTGTAGGAGATGAGCCCGAGGGCC , CM000681.2:g.33401584_33401585insGGAGCTTGACCAGCGTGTAGGAGATGAGCCCGAGGGCC GRCh38
NC_000019.9:g.33892490_33892491insGGAGCTTGACCAGCGTGTAGGAGATGAGCCCGAGGGCC , CM000681.1:g.33892490_33892491insGGAGCTTGACCAGCGTGTAGGAGATGAGCCCGAGGGCC GRCh37
NC_000019.8:g.38584330_38584331insGGAGCTTGACCAGCGTGTAGGAGATGAGCCCGAGGGCC NCBI36
NG_013358.1:g.125309_125310insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
NG_013358.2:g.125309_125310insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000468516.4:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000651901.2:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000498922.2:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698359.1:c.922+136_922+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513682.1:n.922+136_922+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698360.1:c.1018+136_1018+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513683.1:n.1018+136_1018+137insGGCCCTCGGGCTCATCTCCTA...
ENST00000698361.1:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513684.1:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698362.1:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513685.1:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698363.1:n.1030+136_1030+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698364.1:n.1030+136_1030+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698365.1:n.1166_1167insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698426.1:c.646+136_646+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513713.1:n.646+136_646+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698427.1:c.1009+136_1009+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513714.1:n.1009+136_1009+137insGGCCCTCGGGCTCATCTCCTA...
ENST00000698428.1:c.646+136_646+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513715.1:n.646+136_646+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698429.1:n.850+136_850+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698430.1:c.1217+136_1217+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698431.1:c.704+136_704+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000513717.1:n.704+136_704+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000698432.1:c.776+136_776+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698433.1:n.429+136_429+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000698434.1:n.454+136_454+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000244137.12:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC MANE Select ENSP00000244137.5:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000588328.6:c.956+136_956+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000590731.6:n.642+136_642+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000651901.1:c.963+136_963+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
ENST00000244137.11:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000244137.5:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000397032.8:c.844+136_844+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000380226.3:n.844+136_844+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000436370.7:c.775+136_775+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC ENSP00000391890.2:n.775+136_775+137insGGCCCTCGGGCTCATCTCCTACA...
ENST00000588328.5:c.458+136_458+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC
NM_000285.3:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC NP_000276.2:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGG...
NM_001166056.1:c.844+136_844+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC NP_001159528.1:n.844+136_844+137insGGCCCTCGGGCTCATCTCCTACACGC...
NM_001166057.1:c.775+136_775+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC NP_001159529.1:n.775+136_775+137insGGCCCTCGGGCTCATCTCCTACACGC...
NM_000285.4:c.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC MANE Select NP_000276.2:n.967+136_967+137insGGCCCTCGGGCTCATCTCCTACACGCTGG...
NM_001166056.2:c.844+136_844+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC NP_001159528.1:n.844+136_844+137insGGCCCTCGGGCTCATCTCCTACACGC...
NM_001166057.2:c.775+136_775+137insGGCCCTCGGGCTCATCTCCTACACGCTGGTCAAGCTCC NP_001159529.1:n.775+136_775+137insGGCCCTCGGGCTCATCTCCTACACGC...