Canonical Allele Identifier: CA2641629165

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910527-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910528_45910529del , CM000680.2:g.45910528_45910529del	GRCh38
NC_000018.9:g.43490493_43490494del , CM000680.1:g.43490493_43490494del	GRCh37
NC_000018.8:g.41744491_41744492del	NCBI36
NG_042838.1:g.61811_61812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2381_2382del
ENST00000587884.2:c.4197_4198del	ENSP00000466990.2:p.Glu1399AspfsTer15
ENST00000590884.6:c.4197_4198del	ENSP00000466403.2:p.Glu1399AspfsTer15
ENST00000592272.6:c.4197_4198del	ENSP00000467464.2:p.Glu1399AspfsTer15
ENST00000696482.1:c.3937_3938del	ENSP00000512656.1:n.3937_3938del
ENST00000696483.1:c.4197_4198del	ENSP00000512657.1:p.Glu1399AspfsTer15
ENST00000696484.1:c.4197_4198del	ENSP00000512658.1:p.Glu1399AspfsTer15
ENST00000696485.1:c.4197_4198del	ENSP00000512659.1:p.Glu1399AspfsTer15
ENST00000696489.1:c.4197_4198del	ENSP00000512660.1:p.Glu1399AspfsTer15
ENST00000696490.1:c.4197_4198del	ENSP00000512661.1:p.Glu1399AspfsTer15
ENST00000282041.11:c.4197_4198del MANE Select	ENSP00000282041.4:p.Glu1399AspfsTer15
ENST00000282041.9:c.4197_4198del	ENSP00000282041.4:p.Glu1399AspfsTer15
ENST00000585906.5:n.976_977del
ENST00000587884.1:c.822_823del	ENSP00000466990.1:p.Glu274AspfsTer15
ENST00000587974.1:n.4232_4233del
ENST00000590884.5:c.822_823del	ENSP00000466403.1:p.Glu274AspfsTer15
ENST00000592272.5:c.822_823del	ENSP00000467464.1:p.Glu274AspfsTer15
NM_020964.2:c.4197_4198del	NP_066015.2:p.Glu1399AspfsTer15
XM_011526120.1:c.4224_4225del	XP_011524422.1:p.Glu1408AspfsTer15
XM_011526121.1:c.4224_4225del	XP_011524423.1:p.Glu1408AspfsTer15
XM_011526122.1:c.4197_4198del	XP_011524424.1:p.Glu1399AspfsTer15
XM_011526123.1:c.4224_4225del	XP_011524425.1:p.Glu1408AspfsTer15
XM_011526124.1:c.4224_4225del	XP_011524426.1:p.Glu1408AspfsTer15
XM_011526125.1:c.4083_4084del	XP_011524427.1:p.Glu1361AspfsTer15
XM_011526126.1:c.3159_3160del	XP_011524428.1:p.Glu1053AspfsTer15
XM_011526127.1:c.4224_4225del	XP_011524429.1:p.Glu1408AspfsTer15
XM_011526128.1:c.4224_4225del	XP_011524430.1:p.Glu1408AspfsTer15
XR_935244.1:n.4297_4298del
NM_020964.3:c.4197_4198del MANE Select	NP_066015.2:p.Glu1399AspfsTer15
XM_017025889.1:c.4197_4198del	XP_016881378.1:p.Glu1399AspfsTer15
XM_017025890.2:c.4197_4198del	XP_016881379.1:p.Glu1399AspfsTer15
XM_017025891.1:c.4056_4057del	XP_016881380.1:p.Glu1352AspfsTer15
XM_017025892.1:c.3132_3133del	XP_016881381.1:p.Glu1044AspfsTer15
XM_017025893.1:c.822_823del	XP_016881382.1:p.Glu274AspfsTer15
XR_001753256.1:n.4279_4280del
XR_001753257.1:n.4279_4280del