Canonical Allele Identifier: CA2812342750

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910612_45910617del , CM000680.2:g.45910612_45910617del	GRCh38
NC_000018.9:g.43490577_43490582del , CM000680.1:g.43490577_43490582del	GRCh37
NC_000018.8:g.41744575_41744580del	NCBI36
NG_042838.1:g.61724_61729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2294_2299del
ENST00000587884.2:c.4110_4115del	ENSP00000466990.2:p.Arg1371_Val1372del
ENST00000590884.6:c.4110_4115del	ENSP00000466403.2:p.Arg1371_Val1372del
ENST00000592272.6:c.4110_4115del	ENSP00000467464.2:p.Arg1371_Val1372del
ENST00000696482.1:c.3850_3855del	ENSP00000512656.1:n.3850_3855del
ENST00000696483.1:c.4110_4115del	ENSP00000512657.1:p.Arg1371_Val1372del
ENST00000696484.1:c.4110_4115del	ENSP00000512658.1:p.Arg1371_Val1372del
ENST00000696485.1:c.4110_4115del	ENSP00000512659.1:p.Arg1371_Val1372del
ENST00000696489.1:c.4110_4115del	ENSP00000512660.1:p.Arg1371_Val1372del
ENST00000696490.1:c.4110_4115del	ENSP00000512661.1:p.Arg1371_Val1372del
ENST00000282041.11:c.4110_4115del MANE Select	ENSP00000282041.4:p.Arg1371_Val1372del
ENST00000282041.9:c.4110_4115del	ENSP00000282041.4:p.Arg1371_Val1372del
ENST00000585906.5:n.889_894del
ENST00000587884.1:c.735_740del	ENSP00000466990.1:p.Arg246_Val247del
ENST00000587974.1:n.4145_4150del
ENST00000590884.5:c.735_740del	ENSP00000466403.1:p.Arg246_Val247del
ENST00000592272.5:c.735_740del	ENSP00000467464.1:p.Arg246_Val247del
NM_020964.2:c.4110_4115del	NP_066015.2:p.Arg1371_Val1372del
XM_011526120.1:c.4137_4142del	XP_011524422.1:p.Arg1380_Val1381del
XM_011526121.1:c.4137_4142del	XP_011524423.1:p.Arg1380_Val1381del
XM_011526122.1:c.4110_4115del	XP_011524424.1:p.Arg1371_Val1372del
XM_011526123.1:c.4137_4142del	XP_011524425.1:p.Arg1380_Val1381del
XM_011526124.1:c.4137_4142del	XP_011524426.1:p.Arg1380_Val1381del
XM_011526125.1:c.3996_4001del	XP_011524427.1:p.Arg1333_Val1334del
XM_011526126.1:c.3072_3077del	XP_011524428.1:p.Arg1025_Val1026del
XM_011526127.1:c.4137_4142del	XP_011524429.1:p.Arg1380_Val1381del
XM_011526128.1:c.4137_4142del	XP_011524430.1:p.Arg1380_Val1381del
XR_935244.1:n.4210_4215del
NM_020964.3:c.4110_4115del MANE Select	NP_066015.2:p.Arg1371_Val1372del
XM_017025889.1:c.4110_4115del	XP_016881378.1:p.Arg1371_Val1372del
XM_017025890.2:c.4110_4115del	XP_016881379.1:p.Arg1371_Val1372del
XM_017025891.1:c.3969_3974del	XP_016881380.1:p.Arg1324_Val1325del
XM_017025892.1:c.3045_3050del	XP_016881381.1:p.Arg1016_Val1017del
XM_017025893.1:c.735_740del	XP_016881382.1:p.Arg246_Val247del
XR_001753256.1:n.4192_4197del
XR_001753257.1:n.4192_4197del