Canonical Allele Identifier: CA2573155339

Gene: EPG5

Linked Data

• ClinVar Variation Id: 1429287
• ClinVar RCV Id: RCV001967210
• dbSNP Id: rs2145665111

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910530_45910531delinsAA , CM000680.2:g.45910530_45910531delinsAA	GRCh38
NC_000018.9:g.43490495_43490496delinsAA , CM000680.1:g.43490495_43490496delinsAA	GRCh37
NC_000018.8:g.41744493_41744494delinsAA	NCBI36
NG_042838.1:g.61809_61810delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2379_2380delinsTT
ENST00000587884.2:c.4195_4196delinsTT	ENSP00000466990.2:p.Glu1399Leu
ENST00000590884.6:c.4195_4196delinsTT	ENSP00000466403.2:p.Glu1399Leu
ENST00000592272.6:c.4195_4196delinsTT	ENSP00000467464.2:p.Glu1399Leu
ENST00000696482.1:c.3935_3936delinsTT	ENSP00000512656.1:n.3935_3936delinsTT
ENST00000696483.1:c.4195_4196delinsTT	ENSP00000512657.1:p.Glu1399Leu
ENST00000696484.1:c.4195_4196delinsTT	ENSP00000512658.1:p.Glu1399Leu
ENST00000696485.1:c.4195_4196delinsTT	ENSP00000512659.1:p.Glu1399Leu
ENST00000696489.1:c.4195_4196delinsTT	ENSP00000512660.1:p.Glu1399Leu
ENST00000696490.1:c.4195_4196delinsTT	ENSP00000512661.1:p.Glu1399Leu
ENST00000282041.11:c.4195_4196delinsTT MANE Select	ENSP00000282041.4:p.Glu1399Leu
ENST00000282041.9:c.4195_4196delinsTT	ENSP00000282041.4:p.Glu1399Leu
ENST00000585906.5:n.974_975delinsTT
ENST00000587884.1:c.820_821delinsTT	ENSP00000466990.1:p.Glu274Leu
ENST00000587974.1:n.4230_4231delinsTT
ENST00000590884.5:c.820_821delinsTT	ENSP00000466403.1:p.Glu274Leu
ENST00000592272.5:c.820_821delinsTT	ENSP00000467464.1:p.Glu274Leu
NM_020964.2:c.4195_4196delinsTT	NP_066015.2:p.Glu1399Leu
XM_011526120.1:c.4222_4223delinsTT	XP_011524422.1:p.Glu1408Leu
XM_011526121.1:c.4222_4223delinsTT	XP_011524423.1:p.Glu1408Leu
XM_011526122.1:c.4195_4196delinsTT	XP_011524424.1:p.Glu1399Leu
XM_011526123.1:c.4222_4223delinsTT	XP_011524425.1:p.Glu1408Leu
XM_011526124.1:c.4222_4223delinsTT	XP_011524426.1:p.Glu1408Leu
XM_011526125.1:c.4081_4082delinsTT	XP_011524427.1:p.Glu1361Leu
XM_011526126.1:c.3157_3158delinsTT	XP_011524428.1:p.Glu1053Leu
XM_011526127.1:c.4222_4223delinsTT	XP_011524429.1:p.Glu1408Leu
XM_011526128.1:c.4222_4223delinsTT	XP_011524430.1:p.Glu1408Leu
XR_935244.1:n.4295_4296delinsTT
NM_020964.3:c.4195_4196delinsTT MANE Select	NP_066015.2:p.Glu1399Leu
XM_017025889.1:c.4195_4196delinsTT	XP_016881378.1:p.Glu1399Leu
XM_017025890.2:c.4195_4196delinsTT	XP_016881379.1:p.Glu1399Leu
XM_017025891.1:c.4054_4055delinsTT	XP_016881380.1:p.Glu1352Leu
XM_017025892.1:c.3130_3131delinsTT	XP_016881381.1:p.Glu1044Leu
XM_017025893.1:c.820_821delinsTT	XP_016881382.1:p.Glu274Leu
XR_001753256.1:n.4277_4278delinsTT
XR_001753257.1:n.4277_4278delinsTT