Canonical Allele Identifier: CA2697555416
Community Standard Title: NM_020964.3(EPG5):c.5322del (p.Trp1774CysfsTer2)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882471del , CM000680.2:g.45882471del GRCh38
NC_000018.9:g.43462436del , CM000680.1:g.43462436del GRCh37
NC_000018.8:g.41716434del NCBI36
NG_042838.1:g.89870del

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5322del MANE Select NP_066015.2:p.Trp1774CysfsTer2
ENST00000282041.11:c.5322del MANE Select ENSP00000282041.4:p.Trp1774CysfsTer2
NM_020964.2:c.5322del NP_066015.2:p.Trp1774CysfsTer2
ENST00000282041.9:c.5322del ENSP00000282041.4:p.Trp1774CysfsTer2
ENST00000585906.5:n.2101del
ENST00000586655.2:n.3622-39del
ENST00000587884.1:c.*1062del ENSP00000466990.1:n.*1062del
ENST00000587884.2:c.5448del ENSP00000466990.2:n.5448del
ENST00000587973.2:n.1187del
ENST00000590884.5:c.1930-39del ENSP00000466403.1:n.1930-39del
ENST00000590884.6:c.5305-39del ENSP00000466403.2:n.5305-39del
ENST00000592272.5:c.1947del ENSP00000467464.1:p.Trp649CysfsTer2
ENST00000592272.6:c.5322del ENSP00000467464.2:p.Trp1774CysfsTer2
ENST00000696481.1:n.1954del
ENST00000696482.1:c.5062del ENSP00000512656.1:n.5062del
ENST00000696483.1:c.5322del ENSP00000512657.1:p.Trp1774CysfsTer2
ENST00000696484.1:c.5322del ENSP00000512658.1:p.Trp1774CysfsTer2
ENST00000696485.1:c.5305-39del ENSP00000512659.1:n.5305-39del
ENST00000696489.1:c.5322del ENSP00000512660.1:p.Trp1774CysfsTer2
ENST00000696490.1:c.5322del ENSP00000512661.1:p.Trp1774CysfsTer2
XM_011526120.1:c.5349del XP_011524422.1:p.Trp1783CysfsTer2
XM_011526121.1:c.5349del XP_011524423.1:p.Trp1783CysfsTer2
XM_011526122.1:c.5322del XP_011524424.1:p.Trp1774CysfsTer2
XM_011526123.1:c.5349del XP_011524425.1:p.Trp1783CysfsTer2
XM_011526124.1:c.5349del XP_011524426.1:p.Trp1783CysfsTer2
XM_011526125.1:c.5208del XP_011524427.1:p.Trp1736CysfsTer2
XM_011526126.1:c.4284del XP_011524428.1:p.Trp1428CysfsTer2
XM_011526127.1:c.5349del XP_011524429.1:p.Trp1783CysfsTer2
XM_011526128.1:c.5332-39del XP_011524430.1:n.5332-39del
XM_017025889.1:c.5322del XP_016881378.1:p.Trp1774CysfsTer2
XM_017025890.2:c.5322del XP_016881379.1:p.Trp1774CysfsTer2
XM_017025891.1:c.5181del XP_016881380.1:p.Trp1727CysfsTer2
XM_017025892.1:c.4257del XP_016881381.1:p.Trp1419CysfsTer2
XM_017025893.1:c.1947del XP_016881382.1:p.Trp649CysfsTer2
XR_001753256.1:n.5404del
XR_001753257.1:n.5387-39del
XR_935244.1:n.5422del