Canonical Allele Identifier: CA9363891

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1949985
• ClinVar RCV Id: RCV002671365
• dbSNP Id: rs767758884
• ExAC: 19:33878402 C / CA
• gnomAD v2: 19-33878402-C-CA
• gnomAD v3: 19-33387496-C-CA
• gnomAD v4: 19-33387496-C-CA
• MyVariant Identifiers: chr19:g.33878402_33878403insA (hg19) ; chr19:g.33387496_33387497insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387497dup , CM000681.2:g.33387497dup	GRCh38
NC_000019.9:g.33878403dup , CM000681.1:g.33878403dup	GRCh37
NC_000019.8:g.38570243dup	NCBI36
NG_013358.1:g.139397dup
NG_013358.2:g.139397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1411-16dup	ENSP00000468516.4:n.1411-16dup
ENST00000651901.2:c.1435-16dup	ENSP00000498922.2:n.1435-16dup
ENST00000698359.1:c.1300-16dup	ENSP00000513682.1:n.1300-16dup
ENST00000698360.1:c.1396-16dup	ENSP00000513683.1:n.1396-16dup
ENST00000698361.1:c.1461-16dup	ENSP00000513684.1:n.1461-16dup
ENST00000698362.1:c.*466dup	ENSP00000513685.1:n.*466dup
ENST00000698426.1:c.1024-16dup	ENSP00000513713.1:n.1024-16dup
ENST00000698427.1:c.1387-16dup	ENSP00000513714.1:n.1387-16dup
ENST00000698428.1:c.1024-16dup	ENSP00000513715.1:n.1024-16dup
ENST00000698429.1:n.1228-16dup
ENST00000698430.1:c.1595-16dup
ENST00000698431.1:c.1082-16dup	ENSP00000513717.1:n.1082-16dup
ENST00000698432.1:c.1154-16dup
ENST00000698433.1:n.807-16dup
ENST00000244137.12:c.1345-16dup MANE Select	ENSP00000244137.5:n.1345-16dup
ENST00000588328.6:c.1400-16dup
ENST00000651901.1:c.1431-16dup
ENST00000244137.11:c.1345-16dup	ENSP00000244137.5:n.1345-16dup
ENST00000397032.8:c.1222-16dup	ENSP00000380226.3:n.1222-16dup
ENST00000436370.7:c.1153-16dup	ENSP00000391890.2:n.1153-16dup
ENST00000589598.5:n.70-16dup
ENST00000591968.1:n.417-16dup
ENST00000593085.1:n.1232-16dup
NM_000285.3:c.1345-16dup	NP_000276.2:n.1345-16dup
NM_001166056.1:c.1222-16dup	NP_001159528.1:n.1222-16dup
NM_001166057.1:c.1153-16dup	NP_001159529.1:n.1153-16dup
NM_000285.4:c.1345-16dup MANE Select	NP_000276.2:n.1345-16dup
NM_001166056.2:c.1222-16dup	NP_001159528.1:n.1222-16dup
NM_001166057.2:c.1153-16dup	NP_001159529.1:n.1153-16dup