Canonical Allele Identifier: CA632690922

Gene: PEPD

Linked Data

• dbSNP Id: rs1230265593
• gnomAD v2: 19-33878280-CT-C
• MyVariant Identifiers: chr19:g.33878281del (hg19) ; chr19:g.33387375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387376del , CM000681.2:g.33387376del	GRCh38
NC_000019.9:g.33878282del , CM000681.1:g.33878282del	GRCh37
NC_000019.8:g.38570122del	NCBI36
NG_013358.1:g.139519del
NG_013358.2:g.139519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1517del	ENSP00000468516.4:p.Lys506ArgfsTer?
ENST00000651901.2:c.1541del	ENSP00000498922.2:p.Lys514ArgfsTer?
ENST00000698359.1:c.1406del	ENSP00000513682.1:p.Lys469ArgfsTer?
ENST00000698360.1:c.1502del	ENSP00000513683.1:p.Lys501ArgfsTer?
ENST00000698361.1:c.*79del	ENSP00000513684.1:n.*79del
ENST00000698362.1:c.*588del	ENSP00000513685.1:n.*588del
ENST00000698426.1:c.1130del	ENSP00000513713.1:p.Lys377ArgfsTer?
ENST00000698427.1:c.1493del	ENSP00000513714.1:p.Lys498ArgfsTer?
ENST00000698428.1:c.1130del	ENSP00000513715.1:p.Lys377ArgfsTer?
ENST00000698429.1:n.1334del
ENST00000698430.1:c.1701del
ENST00000698431.1:c.1188del	ENSP00000513717.1:n.1188del
ENST00000698432.1:c.1260del
ENST00000698433.1:n.913del
ENST00000244137.12:c.1451del MANE Select	ENSP00000244137.5:p.Lys484ArgfsTer?
ENST00000588328.6:c.1506del
ENST00000651901.1:c.1537del
ENST00000244137.11:c.1451del	ENSP00000244137.5:p.Lys484ArgfsTer?
ENST00000397032.8:c.1328del	ENSP00000380226.3:p.Lys443ArgfsTer?
ENST00000436370.7:c.1259del	ENSP00000391890.2:p.Lys420ArgfsTer?
ENST00000589598.5:n.176del
ENST00000591968.1:n.523del
ENST00000593085.1:n.1338del
NM_000285.3:c.1451del	NP_000276.2:p.Lys484ArgfsTer?
NM_001166056.1:c.1328del	NP_001159528.1:p.Lys443ArgfsTer?
NM_001166057.1:c.1259del	NP_001159529.1:p.Lys420ArgfsTer?
NM_000285.4:c.1451del MANE Select	NP_000276.2:p.Lys484ArgfsTer?
NM_001166056.2:c.1328del	NP_001159528.1:p.Lys443ArgfsTer?
NM_001166057.2:c.1259del	NP_001159529.1:p.Lys420ArgfsTer?