Canonical Allele Identifier: CA645293914
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 427732
ClinVar RCV Id: RCV000490632
dbSNP Id: rs1085308062

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45930736dup , CM000680.2:g.45930736dup GRCh38
NC_000018.9:g.43510702dup , CM000680.1:g.43510702dup GRCh37
NC_000018.8:g.41764700dup NCBI36
NG_042838.1:g.41605dup

Transcript Alleles

HGVS Amino-acid change
ENST00000587884.2:c.2353dup ENSP00000466990.2:p.Ala785GlyfsTer20
ENST00000590884.6:c.2353dup ENSP00000466403.2:p.Ala785GlyfsTer20
ENST00000592272.6:c.2353dup ENSP00000467464.2:p.Ala785GlyfsTer20
ENST00000696480.1:n.1294dup
ENST00000696482.1:c.2353dup ENSP00000512656.1:p.Ala785GlyfsTer20
ENST00000696483.1:c.2353dup ENSP00000512657.1:p.Ala785GlyfsTer20
ENST00000696484.1:c.2353dup ENSP00000512658.1:p.Ala785GlyfsTer20
ENST00000696485.1:c.2353dup ENSP00000512659.1:p.Ala785GlyfsTer20
ENST00000696489.1:c.2353dup ENSP00000512660.1:p.Ala785GlyfsTer20
ENST00000696490.1:c.2353dup ENSP00000512661.1:p.Ala785GlyfsTer20
ENST00000282041.11:c.2353dup MANE Select ENSP00000282041.4:p.Ala785GlyfsTer20
ENST00000282041.9:c.2353dup ENSP00000282041.4:p.Ala785GlyfsTer20
ENST00000587974.1:n.2388dup
NM_020964.2:c.2353dup NP_066015.2:p.Ala785GlyfsTer20
XM_011526120.1:c.2353dup XP_011524422.1:p.Ala785GlyfsTer20
XM_011526121.1:c.2353dup XP_011524423.1:p.Ala785GlyfsTer20
XM_011526122.1:c.2353dup XP_011524424.1:p.Ala785GlyfsTer20
XM_011526123.1:c.2353dup XP_011524425.1:p.Ala785GlyfsTer20
XM_011526124.1:c.2353dup XP_011524426.1:p.Ala785GlyfsTer20
XM_011526125.1:c.2353dup XP_011524427.1:p.Ala785GlyfsTer20
XM_011526126.1:c.1288dup XP_011524428.1:p.Ala430GlyfsTer20
XM_011526127.1:c.2353dup XP_011524429.1:p.Ala785GlyfsTer20
XM_011526128.1:c.2353dup XP_011524430.1:p.Ala785GlyfsTer20
XR_935244.1:n.2453dup
NM_020964.3:c.2353dup MANE Select NP_066015.2:p.Ala785GlyfsTer20
XM_017025889.1:c.2353dup XP_016881378.1:p.Ala785GlyfsTer20
XM_017025890.2:c.2353dup XP_016881379.1:p.Ala785GlyfsTer20
XM_017025891.1:c.2353dup XP_016881380.1:p.Ala785GlyfsTer20
XM_017025892.1:c.1288dup XP_016881381.1:p.Ala430GlyfsTer20
XM_017025893.1:c.-763dup XP_016881382.1:n.-763dup
XR_001753256.1:n.2435dup
XR_001753257.1:n.2435dup