Canonical Allele Identifier: CA9363898

Gene: PEPD

Linked Data

• dbSNP Id: rs756697823
• ExAC: 19:33878410 CATT / C
• gnomAD v2: 19-33878410-CATT-C
• gnomAD v4: 19-33387504-CATT-C
• MyVariant Identifiers: chr19:g.33878411_33878413del (hg19) ; chr19:g.33387505_33387507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387507_33387509del , CM000681.2:g.33387507_33387509del	GRCh38
NC_000019.9:g.33878413_33878415del , CM000681.1:g.33878413_33878415del	GRCh37
NC_000019.8:g.38570253_38570255del	NCBI36
NG_013358.1:g.139387_139389del
NG_013358.2:g.139387_139389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1411-26_1411-24del	ENSP00000468516.4:n.1411-26_1411-24del
ENST00000651901.2:c.1435-26_1435-24del	ENSP00000498922.2:n.1435-26_1435-24del
ENST00000698359.1:c.1300-26_1300-24del	ENSP00000513682.1:n.1300-26_1300-24del
ENST00000698360.1:c.1396-26_1396-24del	ENSP00000513683.1:n.1396-26_1396-24del
ENST00000698361.1:c.1461-26_1461-24del	ENSP00000513684.1:n.1461-26_1461-24del
ENST00000698362.1:c.*456_*458del	ENSP00000513685.1:n.*456_*458del
ENST00000698426.1:c.1024-26_1024-24del	ENSP00000513713.1:n.1024-26_1024-24del
ENST00000698427.1:c.1387-26_1387-24del	ENSP00000513714.1:n.1387-26_1387-24del
ENST00000698428.1:c.1024-26_1024-24del	ENSP00000513715.1:n.1024-26_1024-24del
ENST00000698429.1:n.1228-26_1228-24del
ENST00000698430.1:c.1595-26_1595-24del
ENST00000698431.1:c.1082-26_1082-24del	ENSP00000513717.1:n.1082-26_1082-24del
ENST00000698432.1:c.1154-26_1154-24del
ENST00000698433.1:n.807-26_807-24del
ENST00000244137.12:c.1345-26_1345-24del MANE Select	ENSP00000244137.5:n.1345-26_1345-24del
ENST00000588328.6:c.1400-26_1400-24del
ENST00000651901.1:c.1431-26_1431-24del
ENST00000244137.11:c.1345-26_1345-24del	ENSP00000244137.5:n.1345-26_1345-24del
ENST00000397032.8:c.1222-26_1222-24del	ENSP00000380226.3:n.1222-26_1222-24del
ENST00000436370.7:c.1153-26_1153-24del	ENSP00000391890.2:n.1153-26_1153-24del
ENST00000589598.5:n.70-26_70-24del
ENST00000591968.1:n.417-26_417-24del
ENST00000593085.1:n.1232-26_1232-24del
NM_000285.3:c.1345-26_1345-24del	NP_000276.2:n.1345-26_1345-24del
NM_001166056.1:c.1222-26_1222-24del	NP_001159528.1:n.1222-26_1222-24del
NM_001166057.1:c.1153-26_1153-24del	NP_001159529.1:n.1153-26_1153-24del
NM_000285.4:c.1345-26_1345-24del MANE Select	NP_000276.2:n.1345-26_1345-24del
NM_001166056.2:c.1222-26_1222-24del	NP_001159528.1:n.1222-26_1222-24del
NM_001166057.2:c.1153-26_1153-24del	NP_001159529.1:n.1153-26_1153-24del