Canonical Allele Identifier: CA916083647

Gene: EPG5

Linked Data

• ClinVar Variation Id: 840002
• ClinVar RCV Id: RCV001041888
• dbSNP Id: rs2049867986

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910561_45910562delinsAT , CM000680.2:g.45910561_45910562delinsAT	GRCh38
NC_000018.9:g.43490526_43490527delinsAT , CM000680.1:g.43490526_43490527delinsAT	GRCh37
NC_000018.8:g.41744524_41744525delinsAT	NCBI36
NG_042838.1:g.61778_61779delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2348_2349delinsAT
ENST00000587884.2:c.4164_4165delinsAT	ENSP00000466990.2:p.Gly1389Cys
ENST00000590884.6:c.4164_4165delinsAT	ENSP00000466403.2:p.Gly1389Cys
ENST00000592272.6:c.4164_4165delinsAT	ENSP00000467464.2:p.Gly1389Cys
ENST00000696482.1:c.3904_3905delinsAT	ENSP00000512656.1:n.3904_3905delinsAT
ENST00000696483.1:c.4164_4165delinsAT	ENSP00000512657.1:p.Gly1389Cys
ENST00000696484.1:c.4164_4165delinsAT	ENSP00000512658.1:p.Gly1389Cys
ENST00000696485.1:c.4164_4165delinsAT	ENSP00000512659.1:p.Gly1389Cys
ENST00000696489.1:c.4164_4165delinsAT	ENSP00000512660.1:p.Gly1389Cys
ENST00000696490.1:c.4164_4165delinsAT	ENSP00000512661.1:p.Gly1389Cys
ENST00000282041.11:c.4164_4165delinsAT MANE Select	ENSP00000282041.4:p.Gly1389Cys
ENST00000282041.9:c.4164_4165delinsAT	ENSP00000282041.4:p.Gly1389Cys
ENST00000585906.5:n.943_944delinsAT
ENST00000587884.1:c.789_790delinsAT	ENSP00000466990.1:p.Gly264Cys
ENST00000587974.1:n.4199_4200delinsAT
ENST00000590884.5:c.789_790delinsAT	ENSP00000466403.1:p.Gly264Cys
ENST00000592272.5:c.789_790delinsAT	ENSP00000467464.1:p.Gly264Cys
NM_020964.2:c.4164_4165delinsAT	NP_066015.2:p.Gly1389Cys
XM_011526120.1:c.4191_4192delinsAT	XP_011524422.1:p.Gly1398Cys
XM_011526121.1:c.4191_4192delinsAT	XP_011524423.1:p.Gly1398Cys
XM_011526122.1:c.4164_4165delinsAT	XP_011524424.1:p.Gly1389Cys
XM_011526123.1:c.4191_4192delinsAT	XP_011524425.1:p.Gly1398Cys
XM_011526124.1:c.4191_4192delinsAT	XP_011524426.1:p.Gly1398Cys
XM_011526125.1:c.4050_4051delinsAT	XP_011524427.1:p.Gly1351Cys
XM_011526126.1:c.3126_3127delinsAT	XP_011524428.1:p.Gly1043Cys
XM_011526127.1:c.4191_4192delinsAT	XP_011524429.1:p.Gly1398Cys
XM_011526128.1:c.4191_4192delinsAT	XP_011524430.1:p.Gly1398Cys
XR_935244.1:n.4264_4265delinsAT
NM_020964.3:c.4164_4165delinsAT MANE Select	NP_066015.2:p.Gly1389Cys
XM_017025889.1:c.4164_4165delinsAT	XP_016881378.1:p.Gly1389Cys
XM_017025890.2:c.4164_4165delinsAT	XP_016881379.1:p.Gly1389Cys
XM_017025891.1:c.4023_4024delinsAT	XP_016881380.1:p.Gly1342Cys
XM_017025892.1:c.3099_3100delinsAT	XP_016881381.1:p.Gly1034Cys
XM_017025893.1:c.789_790delinsAT	XP_016881382.1:p.Gly264Cys
XR_001753256.1:n.4246_4247delinsAT
XR_001753257.1:n.4246_4247delinsAT