Canonical Allele Identifier: CA9363892

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1636455
• ClinVar RCV Id: RCV002128377
• dbSNP Id: rs750965279
• ExAC: 19:33878404 GAC / G
• gnomAD v2: 19-33878404-GAC-G
• gnomAD v3: 19-33387498-GAC-G
• gnomAD v4: 19-33387498-GAC-G
• MyVariant Identifiers: chr19:g.33878405_33878406del (hg19) ; chr19:g.33387500_33387501del (hg38) ; chr19:g.33387499_33387500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387504_33387505del , CM000681.2:g.33387504_33387505del	GRCh38
NC_000019.9:g.33878410_33878411del , CM000681.1:g.33878410_33878411del	GRCh37
NC_000019.8:g.38570250_38570251del	NCBI36
NG_013358.1:g.139394_139395del
NG_013358.2:g.139394_139395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1411-19_1411-18del	ENSP00000468516.4:n.1411-19_1411-18del
ENST00000651901.2:c.1435-19_1435-18del	ENSP00000498922.2:n.1435-19_1435-18del
ENST00000698359.1:c.1300-19_1300-18del	ENSP00000513682.1:n.1300-19_1300-18del
ENST00000698360.1:c.1396-19_1396-18del	ENSP00000513683.1:n.1396-19_1396-18del
ENST00000698361.1:c.1461-19_1461-18del	ENSP00000513684.1:n.1461-19_1461-18del
ENST00000698362.1:c.*463_*464del	ENSP00000513685.1:n.*463_*464del
ENST00000698426.1:c.1024-19_1024-18del	ENSP00000513713.1:n.1024-19_1024-18del
ENST00000698427.1:c.1387-19_1387-18del	ENSP00000513714.1:n.1387-19_1387-18del
ENST00000698428.1:c.1024-19_1024-18del	ENSP00000513715.1:n.1024-19_1024-18del
ENST00000698429.1:n.1228-19_1228-18del
ENST00000698430.1:c.1595-19_1595-18del
ENST00000698431.1:c.1082-19_1082-18del	ENSP00000513717.1:n.1082-19_1082-18del
ENST00000698432.1:c.1154-19_1154-18del
ENST00000698433.1:n.807-19_807-18del
ENST00000244137.12:c.1345-19_1345-18del MANE Select	ENSP00000244137.5:n.1345-19_1345-18del
ENST00000588328.6:c.1400-19_1400-18del
ENST00000651901.1:c.1431-19_1431-18del
ENST00000244137.11:c.1345-19_1345-18del	ENSP00000244137.5:n.1345-19_1345-18del
ENST00000397032.8:c.1222-19_1222-18del	ENSP00000380226.3:n.1222-19_1222-18del
ENST00000436370.7:c.1153-19_1153-18del	ENSP00000391890.2:n.1153-19_1153-18del
ENST00000589598.5:n.70-19_70-18del
ENST00000591968.1:n.417-19_417-18del
ENST00000593085.1:n.1232-19_1232-18del
NM_000285.3:c.1345-19_1345-18del	NP_000276.2:n.1345-19_1345-18del
NM_001166056.1:c.1222-19_1222-18del	NP_001159528.1:n.1222-19_1222-18del
NM_001166057.1:c.1153-19_1153-18del	NP_001159529.1:n.1153-19_1153-18del
NM_000285.4:c.1345-19_1345-18del MANE Select	NP_000276.2:n.1345-19_1345-18del
NM_001166056.2:c.1222-19_1222-18del	NP_001159528.1:n.1222-19_1222-18del
NM_001166057.2:c.1153-19_1153-18del	NP_001159529.1:n.1153-19_1153-18del