Canonical Allele Identifier: CA2641629172

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910529-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910529_45910530insA , CM000680.2:g.45910529_45910530insA	GRCh38
NC_000018.9:g.43490494_43490495insA , CM000680.1:g.43490494_43490495insA	GRCh37
NC_000018.8:g.41744492_41744493insA	NCBI36
NG_042838.1:g.61810_61811insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2380_2381insT
ENST00000587884.2:c.4196_4197insT	ENSP00000466990.2:p.Glu1399AspfsTer16
ENST00000590884.6:c.4196_4197insT	ENSP00000466403.2:p.Glu1399AspfsTer16
ENST00000592272.6:c.4196_4197insT	ENSP00000467464.2:p.Glu1399AspfsTer16
ENST00000696482.1:c.3936_3937insT	ENSP00000512656.1:n.3936_3937insT
ENST00000696483.1:c.4196_4197insT	ENSP00000512657.1:p.Glu1399AspfsTer16
ENST00000696484.1:c.4196_4197insT	ENSP00000512658.1:p.Glu1399AspfsTer16
ENST00000696485.1:c.4196_4197insT	ENSP00000512659.1:p.Glu1399AspfsTer16
ENST00000696489.1:c.4196_4197insT	ENSP00000512660.1:p.Glu1399AspfsTer16
ENST00000696490.1:c.4196_4197insT	ENSP00000512661.1:p.Glu1399AspfsTer16
ENST00000282041.11:c.4196_4197insT MANE Select	ENSP00000282041.4:p.Glu1399AspfsTer16
ENST00000282041.9:c.4196_4197insT	ENSP00000282041.4:p.Glu1399AspfsTer16
ENST00000585906.5:n.975_976insT
ENST00000587884.1:c.821_822insT	ENSP00000466990.1:p.Glu274AspfsTer16
ENST00000587974.1:n.4231_4232insT
ENST00000590884.5:c.821_822insT	ENSP00000466403.1:p.Glu274AspfsTer16
ENST00000592272.5:c.821_822insT	ENSP00000467464.1:p.Glu274AspfsTer16
NM_020964.2:c.4196_4197insT	NP_066015.2:p.Glu1399AspfsTer16
XM_011526120.1:c.4223_4224insT	XP_011524422.1:p.Glu1408AspfsTer16
XM_011526121.1:c.4223_4224insT	XP_011524423.1:p.Glu1408AspfsTer16
XM_011526122.1:c.4196_4197insT	XP_011524424.1:p.Glu1399AspfsTer16
XM_011526123.1:c.4223_4224insT	XP_011524425.1:p.Glu1408AspfsTer16
XM_011526124.1:c.4223_4224insT	XP_011524426.1:p.Glu1408AspfsTer16
XM_011526125.1:c.4082_4083insT	XP_011524427.1:p.Glu1361AspfsTer16
XM_011526126.1:c.3158_3159insT	XP_011524428.1:p.Glu1053AspfsTer16
XM_011526127.1:c.4223_4224insT	XP_011524429.1:p.Glu1408AspfsTer16
XM_011526128.1:c.4223_4224insT	XP_011524430.1:p.Glu1408AspfsTer16
XR_935244.1:n.4296_4297insT
NM_020964.3:c.4196_4197insT MANE Select	NP_066015.2:p.Glu1399AspfsTer16
XM_017025889.1:c.4196_4197insT	XP_016881378.1:p.Glu1399AspfsTer16
XM_017025890.2:c.4196_4197insT	XP_016881379.1:p.Glu1399AspfsTer16
XM_017025891.1:c.4055_4056insT	XP_016881380.1:p.Glu1352AspfsTer16
XM_017025892.1:c.3131_3132insT	XP_016881381.1:p.Glu1044AspfsTer16
XM_017025893.1:c.821_822insT	XP_016881382.1:p.Glu274AspfsTer16
XR_001753256.1:n.4278_4279insT
XR_001753257.1:n.4278_4279insT