Canonical Allele Identifier: CA2332698531

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387373_33387383delinsCCTTGTCACAG , CM000681.2:g.33387373_33387383delinsCCTTGTCACAG	GRCh38
NC_000019.9:g.33878279_33878289delinsCCTTGTCACAG , CM000681.1:g.33878279_33878289delinsCCTTGTCACAG	GRCh37
NC_000019.8:g.38570119_38570129delinsCCTTGTCACAG	NCBI36
NG_013358.1:g.139511_139521delinsCTGTGACAAGG
NG_013358.2:g.139511_139521delinsCTGTGACAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1509_1519delinsCTGTGACAAGG	ENSP00000468516.4:p.Gly503=
ENST00000651901.2:c.1533_1543delinsCTGTGACAAGG	ENSP00000498922.2:p.Gly511=
ENST00000698359.1:c.1398_1408delinsCTGTGACAAGG	ENSP00000513682.1:p.Gly466=
ENST00000698360.1:c.1494_1504delinsCTGTGACAAGG	ENSP00000513683.1:p.Gly498=
ENST00000698361.1:c.*71_*81delinsCTGTGACAAGG	ENSP00000513684.1:n.*71_*81delinsCTGTGACAAGG
ENST00000698362.1:c.*580_*590delinsCTGTGACAAGG	ENSP00000513685.1:n.*580_*590delinsCTGTGACAAGG
ENST00000698426.1:c.1122_1132delinsCTGTGACAAGG	ENSP00000513713.1:p.Gly374=
ENST00000698427.1:c.1485_1495delinsCTGTGACAAGG	ENSP00000513714.1:p.Gly495=
ENST00000698428.1:c.1122_1132delinsCTGTGACAAGG	ENSP00000513715.1:p.Gly374=
ENST00000698429.1:n.1326_1336delinsCTGTGACAAGG
ENST00000698430.1:c.1693_1703delinsCTGTGACAAGG
ENST00000698431.1:c.1180_1190delinsCTGTGACAAGG	ENSP00000513717.1:n.1180_1190delinsCTGTGACAAGG
ENST00000698432.1:c.1252_1262delinsCTGTGACAAGG
ENST00000698433.1:n.905_915delinsCTGTGACAAGG
ENST00000244137.12:c.1443_1453delinsCTGTGACAAGG MANE Select	ENSP00000244137.5:p.Gly481=
ENST00000588328.6:c.1498_1508delinsCTGTGACAAGG
ENST00000651901.1:c.1529_1539delinsCTGTGACAAGG
ENST00000244137.11:c.1443_1453delinsCTGTGACAAGG	ENSP00000244137.5:p.Gly481=
ENST00000397032.8:c.1320_1330delinsCTGTGACAAGG	ENSP00000380226.3:p.Gly440=
ENST00000436370.7:c.1251_1261delinsCTGTGACAAGG	ENSP00000391890.2:p.Gly417=
ENST00000589598.5:n.168_178delinsCTGTGACAAGG
ENST00000591968.1:n.515_525delinsCTGTGACAAGG
ENST00000593085.1:n.1330_1340delinsCTGTGACAAGG
NM_000285.3:c.1443_1453delinsCTGTGACAAGG	NP_000276.2:p.Gly481=
NM_001166056.1:c.1320_1330delinsCTGTGACAAGG	NP_001159528.1:p.Gly440=
NM_001166057.1:c.1251_1261delinsCTGTGACAAGG	NP_001159529.1:p.Gly417=
NM_000285.4:c.1443_1453delinsCTGTGACAAGG MANE Select	NP_000276.2:p.Gly481=
NM_001166056.2:c.1320_1330delinsCTGTGACAAGG	NP_001159528.1:p.Gly440=
NM_001166057.2:c.1251_1261delinsCTGTGACAAGG	NP_001159529.1:p.Gly417=