Canonical Allele Identifier: CA2641629162
Gene: EPG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45910526_45910527insGT , CM000680.2:g.45910526_45910527insGT GRCh38
NC_000018.9:g.43490491_43490492insGT , CM000680.1:g.43490491_43490492insGT GRCh37
NC_000018.8:g.41744489_41744490insGT NCBI36
NG_042838.1:g.61813_61814insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000586655.2:n.2383_2384insAC
ENST00000587884.2:c.4199_4200insAC ENSP00000466990.2:p.Val1401ArgfsTer2
ENST00000590884.6:c.4199_4200insAC ENSP00000466403.2:p.Val1401ArgfsTer2
ENST00000592272.6:c.4199_4200insAC ENSP00000467464.2:p.Val1401ArgfsTer2
ENST00000696482.1:c.3939_3940insAC ENSP00000512656.1:n.3939_3940insAC
ENST00000696483.1:c.4199_4200insAC ENSP00000512657.1:p.Val1401ArgfsTer2
ENST00000696484.1:c.4199_4200insAC ENSP00000512658.1:p.Val1401ArgfsTer2
ENST00000696485.1:c.4199_4200insAC ENSP00000512659.1:p.Val1401ArgfsTer2
ENST00000696489.1:c.4199_4200insAC ENSP00000512660.1:p.Val1401ArgfsTer2
ENST00000696490.1:c.4199_4200insAC ENSP00000512661.1:p.Val1401ArgfsTer2
ENST00000282041.11:c.4199_4200insAC MANE Select ENSP00000282041.4:p.Val1401ArgfsTer2
ENST00000282041.9:c.4199_4200insAC ENSP00000282041.4:p.Val1401ArgfsTer2
ENST00000585906.5:n.978_979insAC
ENST00000587884.1:c.824_825insAC ENSP00000466990.1:p.Val276ArgfsTer2
ENST00000587974.1:n.4234_4235insAC
ENST00000590884.5:c.824_825insAC ENSP00000466403.1:p.Val276ArgfsTer2
ENST00000592272.5:c.824_825insAC ENSP00000467464.1:p.Val276ArgfsTer2
NM_020964.2:c.4199_4200insAC NP_066015.2:p.Val1401ArgfsTer2
XM_011526120.1:c.4226_4227insAC XP_011524422.1:p.Val1410ArgfsTer2
XM_011526121.1:c.4226_4227insAC XP_011524423.1:p.Val1410ArgfsTer2
XM_011526122.1:c.4199_4200insAC XP_011524424.1:p.Val1401ArgfsTer2
XM_011526123.1:c.4226_4227insAC XP_011524425.1:p.Val1410ArgfsTer2
XM_011526124.1:c.4226_4227insAC XP_011524426.1:p.Val1410ArgfsTer2
XM_011526125.1:c.4085_4086insAC XP_011524427.1:p.Val1363ArgfsTer2
XM_011526126.1:c.3161_3162insAC XP_011524428.1:p.Val1055ArgfsTer2
XM_011526127.1:c.4226_4227insAC XP_011524429.1:p.Val1410ArgfsTer2
XM_011526128.1:c.4226_4227insAC XP_011524430.1:p.Val1410ArgfsTer2
XR_935244.1:n.4299_4300insAC
NM_020964.3:c.4199_4200insAC MANE Select NP_066015.2:p.Val1401ArgfsTer2
XM_017025889.1:c.4199_4200insAC XP_016881378.1:p.Val1401ArgfsTer2
XM_017025890.2:c.4199_4200insAC XP_016881379.1:p.Val1401ArgfsTer2
XM_017025891.1:c.4058_4059insAC XP_016881380.1:p.Val1354ArgfsTer2
XM_017025892.1:c.3134_3135insAC XP_016881381.1:p.Val1046ArgfsTer2
XM_017025893.1:c.824_825insAC XP_016881382.1:p.Val276ArgfsTer2
XR_001753256.1:n.4281_4282insAC
XR_001753257.1:n.4281_4282insAC