Canonical Allele Identifier: CA2503667969

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45930703_45930704insGGGATTACAGGCGTGGGCCATGCACCTGGCCC , CM000680.2:g.45930703_45930704insGGGATTACAGGCGTGGGCCATGCACCTGGCCC	GRCh38
NC_000018.9:g.43510669_43510670insGGGATTACAGGCGTGGGCCATGCACCTGGCCC , CM000680.1:g.43510669_43510670insGGGATTACAGGCGTGGGCCATGCACCTGGCCC	GRCh37
NC_000018.8:g.41764667_41764668insGGGATTACAGGCGTGGGCCATGCACCTGGCCC	NCBI36
NG_042838.1:g.41636_41637insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000466990.2:p.Ile795MetfsTer10
ENST00000590884.6:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000466403.2:p.Ile795MetfsTer10
ENST00000592272.6:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000467464.2:p.Ile795MetfsTer10
ENST00000696480.1:n.1325_1326insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC
ENST00000696482.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000512656.1:p.Ile795MetfsTer10
ENST00000696483.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000512657.1:p.Ile795MetfsTer10
ENST00000696484.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000512658.1:p.Ile795MetfsTer10
ENST00000696485.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000512659.1:p.Ile795MetfsTer10
ENST00000696489.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000512660.1:p.Ile795MetfsTer10
ENST00000696490.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000512661.1:p.Ile795MetfsTer10
ENST00000282041.11:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC MANE Select	ENSP00000282041.4:p.Ile795MetfsTer10
ENST00000282041.9:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	ENSP00000282041.4:p.Ile795MetfsTer10
ENST00000587974.1:n.2419_2420insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC
NM_020964.2:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	NP_066015.2:p.Ile795MetfsTer10
XM_011526120.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524422.1:p.Ile795MetfsTer10
XM_011526121.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524423.1:p.Ile795MetfsTer10
XM_011526122.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524424.1:p.Ile795MetfsTer10
XM_011526123.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524425.1:p.Ile795MetfsTer10
XM_011526124.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524426.1:p.Ile795MetfsTer10
XM_011526125.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524427.1:p.Ile795MetfsTer10
XM_011526126.1:c.1319_1320insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524428.1:p.Ile440MetfsTer10
XM_011526127.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524429.1:p.Ile795MetfsTer10
XM_011526128.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_011524430.1:p.Ile795MetfsTer10
XR_935244.1:n.2484_2485insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC
NM_020964.3:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC MANE Select	NP_066015.2:p.Ile795MetfsTer10
XM_017025889.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_016881378.1:p.Ile795MetfsTer10
XM_017025890.2:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_016881379.1:p.Ile795MetfsTer10
XM_017025891.1:c.2384_2385insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_016881380.1:p.Ile795MetfsTer10
XM_017025892.1:c.1319_1320insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_016881381.1:p.Ile440MetfsTer10
XM_017025893.1:c.-732_-731insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC	XP_016881382.1:n.-732_-731insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC...
XR_001753256.1:n.2466_2467insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC
XR_001753257.1:n.2466_2467insGGGCCAGGTGCATGGCCCACGCCTGTAATCCC