Canonical Allele Identifier: CA10648514

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328778
• ClinVar RCV Id: RCV000403368 ; RCV001653597
• dbSNP Id: rs16426
• gnomAD v2: 19-33878071-G-GTAAT
• gnomAD v3: 19-33387165-G-GTAAT
• gnomAD v4: 19-33387165-G-GTAAT
• MyVariant Identifiers: chr19:g.33878072_33878075dupTAAT (hg19) ; chr19:g.33878071_33878072insTAAT (hg19) ; chr19:g.33387166_33387169dupTAAT (hg38) ; chr19:g.33387165_33387166insTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387169_33387172dup , CM000681.2:g.33387169_33387172dup	GRCh38
NC_000019.9:g.33878075_33878078dup , CM000681.1:g.33878075_33878078dup	GRCh37
NC_000019.8:g.38569915_38569918dup	NCBI36
NG_013358.1:g.139725_139728dup
NG_013358.2:g.139725_139728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*175_*178dup	ENSP00000468516.4:n.*175_*178dup
ENST00000651901.2:c.*175_*178dup	ENSP00000498922.2:n.*175_*178dup
ENST00000698359.1:c.*175_*178dup	ENSP00000513682.1:n.*175_*178dup
ENST00000698360.1:c.*175_*178dup	ENSP00000513683.1:n.*175_*178dup
ENST00000698361.1:c.*285_*288dup	ENSP00000513684.1:n.*285_*288dup
ENST00000698362.1:c.*794_*797dup	ENSP00000513685.1:n.*794_*797dup
ENST00000698426.1:c.*175_*178dup	ENSP00000513713.1:n.*175_*178dup
ENST00000698427.1:c.*175_*178dup	ENSP00000513714.1:n.*175_*178dup
ENST00000698428.1:c.*175_*178dup	ENSP00000513715.1:n.*175_*178dup
ENST00000698429.1:n.1540_1543dup
ENST00000698430.1:c.1907_1910dup
ENST00000698431.1:c.1394_1397dup	ENSP00000513717.1:n.1394_1397dup
ENST00000698432.1:c.1466_1469dup
ENST00000244137.12:c.*175_*178dup MANE Select	ENSP00000244137.5:n.*175_*178dup
ENST00000588328.6:c.1712_1715dup
ENST00000651901.1:c.1743_1746dup
ENST00000244137.11:c.*175_*178dup	ENSP00000244137.5:n.*175_*178dup
ENST00000397032.8:c.*175_*178dup	ENSP00000380226.3:n.*175_*178dup
ENST00000436370.7:c.*175_*178dup	ENSP00000391890.2:n.*175_*178dup
ENST00000589598.5:n.382_385dup
ENST00000591968.1:n.729_732dup
ENST00000593085.1:n.1544_1547dup
NM_000285.3:c.*175_*178dup	NP_000276.2:n.*175_*178dup
NM_001166056.1:c.*175_*178dup	NP_001159528.1:n.*175_*178dup
NM_001166057.1:c.*175_*178dup	NP_001159529.1:n.*175_*178dup
NM_000285.4:c.*175_*178dup MANE Select	NP_000276.2:n.*175_*178dup
NM_001166056.2:c.*175_*178dup	NP_001159528.1:n.*175_*178dup
NM_001166057.2:c.*175_*178dup	NP_001159529.1:n.*175_*178dup