Canonical Allele Identifier: CA10648508

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328776
• ClinVar RCV Id: RCV000295185
• dbSNP Id: rs140842
• gnomAD v2: 19-33877912-G-GAAAGT
• gnomAD v3: 19-33387006-G-GAAAGT
• gnomAD v4: 19-33387006-G-GAAAGT
• COSMIC: COSN20115722 ; COSN20115723
• MyVariant Identifiers: chr19:g.33877913_33877917dupAAAGT (hg19) ; chr19:g.33877912_33877913insAAAGT (hg19) ; chr19:g.33387007_33387011dupAAAGT (hg38) ; chr19:g.33387006_33387007insAAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387008_33387012dup , CM000681.2:g.33387008_33387012dup	GRCh38
NC_000019.9:g.33877914_33877918dup , CM000681.1:g.33877914_33877918dup	GRCh37
NC_000019.8:g.38569754_38569758dup	NCBI36
NG_013358.1:g.139883_139887dup
NG_013358.2:g.139883_139887dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.*333_*337dup	ENSP00000468516.4:n.*333_*337dup
ENST00000698359.1:c.*333_*337dup	ENSP00000513682.1:n.*333_*337dup
ENST00000698360.1:c.*333_*337dup	ENSP00000513683.1:n.*333_*337dup
ENST00000698361.1:c.*443_*447dup	ENSP00000513684.1:n.*443_*447dup
ENST00000698362.1:c.*952_*956dup	ENSP00000513685.1:n.*952_*956dup
ENST00000698426.1:c.*333_*337dup	ENSP00000513713.1:n.*333_*337dup
ENST00000698427.1:c.*333_*337dup	ENSP00000513714.1:n.*333_*337dup
ENST00000698428.1:c.*333_*337dup	ENSP00000513715.1:n.*333_*337dup
ENST00000698429.1:n.1698_1702dup
ENST00000698430.1:c.2065_2069dup
ENST00000698431.1:c.1552_1556dup	ENSP00000513717.1:n.1552_1556dup
ENST00000698432.1:c.1624_1628dup
ENST00000244137.12:c.*333_*337dup MANE Select	ENSP00000244137.5:n.*333_*337dup
ENST00000588328.6:c.1870_1874dup
ENST00000244137.11:c.*333_*337dup	ENSP00000244137.5:n.*333_*337dup
ENST00000397032.8:c.*333_*337dup	ENSP00000380226.3:n.*333_*337dup
ENST00000589598.5:n.540_544dup
ENST00000591968.1:n.887_891dup
ENST00000593085.1:n.1702_1706dup
NM_000285.3:c.*333_*337dup	NP_000276.2:n.*333_*337dup
NM_001166056.1:c.*333_*337dup	NP_001159528.1:n.*333_*337dup
NM_001166057.1:c.*333_*337dup	NP_001159529.1:n.*333_*337dup
NM_000285.4:c.*333_*337dup MANE Select	NP_000276.2:n.*333_*337dup
NM_001166056.2:c.*333_*337dup	NP_001159528.1:n.*333_*337dup
NM_001166057.2:c.*333_*337dup	NP_001159529.1:n.*333_*337dup