Canonical Allele Identifier: CA2560332651

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387377_33387378insCAACCTCTT , CM000681.2:g.33387377_33387378insCAACCTCTT	GRCh38
NC_000019.9:g.33878283_33878284insCAACCTCTT , CM000681.1:g.33878283_33878284insCAACCTCTT	GRCh37
NC_000019.8:g.38570123_38570124insCAACCTCTT	NCBI36
NG_013358.1:g.139516_139517insAAGAGGTTG
NG_013358.2:g.139516_139517insAAGAGGTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1514_1515insAAGAGGTTG	ENSP00000468516.4:p.Asp505delinsGluArgGlyCys
ENST00000651901.2:c.1538_1539insAAGAGGTTG	ENSP00000498922.2:p.Asp513delinsGluArgGlyCys
ENST00000698359.1:c.1403_1404insAAGAGGTTG	ENSP00000513682.1:p.Asp468delinsGluArgGlyCys
ENST00000698360.1:c.1499_1500insAAGAGGTTG	ENSP00000513683.1:p.Asp500delinsGluArgGlyCys
ENST00000698361.1:c.*76_*77insAAGAGGTTG	ENSP00000513684.1:n.*76_*77insAAGAGGTTG
ENST00000698362.1:c.*585_*586insAAGAGGTTG	ENSP00000513685.1:n.*585_*586insAAGAGGTTG
ENST00000698426.1:c.1127_1128insAAGAGGTTG	ENSP00000513713.1:p.Asp376delinsGluArgGlyCys
ENST00000698427.1:c.1490_1491insAAGAGGTTG	ENSP00000513714.1:p.Asp497delinsGluArgGlyCys
ENST00000698428.1:c.1127_1128insAAGAGGTTG	ENSP00000513715.1:p.Asp376delinsGluArgGlyCys
ENST00000698429.1:n.1331_1332insAAGAGGTTG
ENST00000698430.1:c.1698_1699insAAGAGGTTG
ENST00000698431.1:c.1185_1186insAAGAGGTTG	ENSP00000513717.1:n.1185_1186insAAGAGGTTG
ENST00000698432.1:c.1257_1258insAAGAGGTTG
ENST00000698433.1:n.910_911insAAGAGGTTG
ENST00000244137.12:c.1448_1449insAAGAGGTTG MANE Select	ENSP00000244137.5:p.Asp483delinsGluArgGlyCys
ENST00000588328.6:c.1503_1504insAAGAGGTTG
ENST00000651901.1:c.1534_1535insAAGAGGTTG
ENST00000244137.11:c.1448_1449insAAGAGGTTG	ENSP00000244137.5:p.Asp483delinsGluArgGlyCys
ENST00000397032.8:c.1325_1326insAAGAGGTTG	ENSP00000380226.3:p.Asp442delinsGluArgGlyCys
ENST00000436370.7:c.1256_1257insAAGAGGTTG	ENSP00000391890.2:p.Asp419delinsGluArgGlyCys
ENST00000589598.5:n.173_174insAAGAGGTTG
ENST00000591968.1:n.520_521insAAGAGGTTG
ENST00000593085.1:n.1335_1336insAAGAGGTTG
NM_000285.3:c.1448_1449insAAGAGGTTG	NP_000276.2:p.Asp483delinsGluArgGlyCys
NM_001166056.1:c.1325_1326insAAGAGGTTG	NP_001159528.1:p.Asp442delinsGluArgGlyCys
NM_001166057.1:c.1256_1257insAAGAGGTTG	NP_001159529.1:p.Asp419delinsGluArgGlyCys
NM_000285.4:c.1448_1449insAAGAGGTTG MANE Select	NP_000276.2:p.Asp483delinsGluArgGlyCys
NM_001166056.2:c.1325_1326insAAGAGGTTG	NP_001159528.1:p.Asp442delinsGluArgGlyCys
NM_001166057.2:c.1256_1257insAAGAGGTTG	NP_001159529.1:p.Asp419delinsGluArgGlyCys