Canonical Allele Identifier: CA2641629262

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910614-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910615_45910616del , CM000680.2:g.45910615_45910616del	GRCh38
NC_000018.9:g.43490580_43490581del , CM000680.1:g.43490580_43490581del	GRCh37
NC_000018.8:g.41744578_41744579del	NCBI36
NG_042838.1:g.61724_61725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2294_2295del
ENST00000587884.2:c.4110_4111del	ENSP00000466990.2:p.Arg1371CysfsTer7
ENST00000590884.6:c.4110_4111del	ENSP00000466403.2:p.Arg1371CysfsTer7
ENST00000592272.6:c.4110_4111del	ENSP00000467464.2:p.Arg1371CysfsTer7
ENST00000696482.1:c.3850_3851del	ENSP00000512656.1:n.3850_3851del
ENST00000696483.1:c.4110_4111del	ENSP00000512657.1:p.Arg1371CysfsTer7
ENST00000696484.1:c.4110_4111del	ENSP00000512658.1:p.Arg1371CysfsTer7
ENST00000696485.1:c.4110_4111del	ENSP00000512659.1:p.Arg1371CysfsTer7
ENST00000696489.1:c.4110_4111del	ENSP00000512660.1:p.Arg1371CysfsTer7
ENST00000696490.1:c.4110_4111del	ENSP00000512661.1:p.Arg1371CysfsTer7
ENST00000282041.11:c.4110_4111del MANE Select	ENSP00000282041.4:p.Arg1371CysfsTer7
ENST00000282041.9:c.4110_4111del	ENSP00000282041.4:p.Arg1371CysfsTer7
ENST00000585906.5:n.889_890del
ENST00000587884.1:c.735_736del	ENSP00000466990.1:p.Arg246CysfsTer7
ENST00000587974.1:n.4145_4146del
ENST00000590884.5:c.735_736del	ENSP00000466403.1:p.Arg246CysfsTer7
ENST00000592272.5:c.735_736del	ENSP00000467464.1:p.Arg246CysfsTer7
NM_020964.2:c.4110_4111del	NP_066015.2:p.Arg1371CysfsTer7
XM_011526120.1:c.4137_4138del	XP_011524422.1:p.Arg1380CysfsTer7
XM_011526121.1:c.4137_4138del	XP_011524423.1:p.Arg1380CysfsTer7
XM_011526122.1:c.4110_4111del	XP_011524424.1:p.Arg1371CysfsTer7
XM_011526123.1:c.4137_4138del	XP_011524425.1:p.Arg1380CysfsTer7
XM_011526124.1:c.4137_4138del	XP_011524426.1:p.Arg1380CysfsTer7
XM_011526125.1:c.3996_3997del	XP_011524427.1:p.Arg1333CysfsTer7
XM_011526126.1:c.3072_3073del	XP_011524428.1:p.Arg1025CysfsTer7
XM_011526127.1:c.4137_4138del	XP_011524429.1:p.Arg1380CysfsTer7
XM_011526128.1:c.4137_4138del	XP_011524430.1:p.Arg1380CysfsTer7
XR_935244.1:n.4210_4211del
NM_020964.3:c.4110_4111del MANE Select	NP_066015.2:p.Arg1371CysfsTer7
XM_017025889.1:c.4110_4111del	XP_016881378.1:p.Arg1371CysfsTer7
XM_017025890.2:c.4110_4111del	XP_016881379.1:p.Arg1371CysfsTer7
XM_017025891.1:c.3969_3970del	XP_016881380.1:p.Arg1324CysfsTer7
XM_017025892.1:c.3045_3046del	XP_016881381.1:p.Arg1016CysfsTer7
XM_017025893.1:c.735_736del	XP_016881382.1:p.Arg246CysfsTer7
XR_001753256.1:n.4192_4193del
XR_001753257.1:n.4192_4193del