Canonical Allele Identifier: CA16044048
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 375296
ClinVar RCV Id: RCV000416351
dbSNP Id: rs1057519318

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45899549del , CM000680.2:g.45899549del GRCh38
NC_000018.9:g.43479514del , CM000680.1:g.43479514del GRCh37
NC_000018.8:g.41733512del NCBI36
NG_042838.1:g.72792del

Transcript Alleles

HGVS Amino-acid change
ENST00000586655.2:n.2982del
ENST00000587884.2:c.4791del ENSP00000466990.2:n.4791del
ENST00000590884.6:c.4665del ENSP00000466403.2:p.Glu1555AspfsTer12
ENST00000592272.6:c.4665del ENSP00000467464.2:p.Glu1555AspfsTer12
ENST00000696482.1:c.4405del ENSP00000512656.1:n.4405del
ENST00000696483.1:c.4665del ENSP00000512657.1:p.Glu1555AspfsTer12
ENST00000696484.1:c.4665del ENSP00000512658.1:p.Glu1555AspfsTer12
ENST00000696485.1:c.4665del ENSP00000512659.1:p.Glu1555AspfsTer12
ENST00000696489.1:c.4665del ENSP00000512660.1:p.Glu1555AspfsTer12
ENST00000696490.1:c.4665del ENSP00000512661.1:p.Glu1555AspfsTer12
ENST00000696785.1:n.3165del
ENST00000282041.11:c.4665del MANE Select ENSP00000282041.4:p.Glu1555AspfsTer12
ENST00000282041.9:c.4665del ENSP00000282041.4:p.Glu1555AspfsTer12
ENST00000585906.5:n.1444del
ENST00000587884.1:c.*405del ENSP00000466990.1:n.*405del
ENST00000590884.5:c.1290del ENSP00000466403.1:p.Glu430AspfsTer12
ENST00000592272.5:c.1290del ENSP00000467464.1:p.Glu430AspfsTer12
NM_020964.2:c.4665del NP_066015.2:p.Glu1555AspfsTer12
XM_011526120.1:c.4692del XP_011524422.1:p.Glu1564AspfsTer12
XM_011526121.1:c.4692del XP_011524423.1:p.Glu1564AspfsTer12
XM_011526122.1:c.4665del XP_011524424.1:p.Glu1555AspfsTer12
XM_011526123.1:c.4692del XP_011524425.1:p.Glu1564AspfsTer12
XM_011526124.1:c.4692del XP_011524426.1:p.Glu1564AspfsTer12
XM_011526125.1:c.4551del XP_011524427.1:p.Glu1517AspfsTer12
XM_011526126.1:c.3627del XP_011524428.1:p.Glu1209AspfsTer12
XM_011526127.1:c.4692del XP_011524429.1:p.Glu1564AspfsTer12
XM_011526128.1:c.4692del XP_011524430.1:p.Glu1564AspfsTer12
XR_935244.1:n.4765del
NM_020964.3:c.4665del MANE Select NP_066015.2:p.Glu1555AspfsTer12
XM_017025889.1:c.4665del XP_016881378.1:p.Glu1555AspfsTer12
XM_017025890.2:c.4665del XP_016881379.1:p.Glu1555AspfsTer12
XM_017025891.1:c.4524del XP_016881380.1:p.Glu1508AspfsTer12
XM_017025892.1:c.3600del XP_016881381.1:p.Glu1200AspfsTer12
XM_017025893.1:c.1290del XP_016881382.1:p.Glu430AspfsTer12
XR_001753256.1:n.4747del
XR_001753257.1:n.4747del