Canonical Allele Identifier: CA2641630762

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45923195_45923197del , CM000680.2:g.45923195_45923197del	GRCh38
NC_000018.9:g.43503161_43503163del , CM000680.1:g.43503161_43503163del	GRCh37
NC_000018.8:g.41757159_41757161del	NCBI36
NG_042838.1:g.49143_49145del

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.2838+71_2838+73del MANE Select	NP_066015.2:n.2838+71_2838+73del
ENST00000282041.11:c.2838+71_2838+73del MANE Select	ENSP00000282041.4:n.2838+71_2838+73del
NM_020964.2:c.2838+71_2838+73del	NP_066015.2:n.2838+71_2838+73del
ENST00000282041.9:c.2838+71_2838+73del	ENSP00000282041.4:n.2838+71_2838+73del
ENST00000587884.2:c.2838+71_2838+73del	ENSP00000466990.2:n.2838+71_2838+73del
ENST00000587974.1:n.2873+71_2873+73del
ENST00000590884.6:c.2838+71_2838+73del	ENSP00000466403.2:n.2838+71_2838+73del
ENST00000592272.6:c.2838+71_2838+73del	ENSP00000467464.2:n.2838+71_2838+73del
ENST00000696482.1:c.2838+71_2838+73del	ENSP00000512656.1:n.2838+71_2838+73del
ENST00000696483.1:c.2838+71_2838+73del	ENSP00000512657.1:n.2838+71_2838+73del
ENST00000696484.1:c.2838+71_2838+73del	ENSP00000512658.1:n.2838+71_2838+73del
ENST00000696485.1:c.2838+71_2838+73del	ENSP00000512659.1:n.2838+71_2838+73del
ENST00000696489.1:c.2838+71_2838+73del	ENSP00000512660.1:n.2838+71_2838+73del
ENST00000696490.1:c.2838+71_2838+73del	ENSP00000512661.1:n.2838+71_2838+73del
XM_011526120.1:c.2838+71_2838+73del	XP_011524422.1:n.2838+71_2838+73del
XM_011526121.1:c.2838+71_2838+73del	XP_011524423.1:n.2838+71_2838+73del
XM_011526122.1:c.2838+71_2838+73del	XP_011524424.1:n.2838+71_2838+73del
XM_011526123.1:c.2838+71_2838+73del	XP_011524425.1:n.2838+71_2838+73del
XM_011526124.1:c.2838+71_2838+73del	XP_011524426.1:n.2838+71_2838+73del
XM_011526125.1:c.2838+71_2838+73del	XP_011524427.1:n.2838+71_2838+73del
XM_011526126.1:c.1773+71_1773+73del	XP_011524428.1:n.1773+71_1773+73del
XM_011526127.1:c.2838+71_2838+73del	XP_011524429.1:n.2838+71_2838+73del
XM_011526128.1:c.2838+71_2838+73del	XP_011524430.1:n.2838+71_2838+73del
XM_017025889.1:c.2838+71_2838+73del	XP_016881378.1:n.2838+71_2838+73del
XM_017025890.2:c.2838+71_2838+73del	XP_016881379.1:n.2838+71_2838+73del
XM_017025891.1:c.2838+71_2838+73del	XP_016881380.1:n.2838+71_2838+73del
XM_017025892.1:c.1773+71_1773+73del	XP_016881381.1:n.1773+71_1773+73del
XM_017025893.1:c.-278+71_-278+73del	XP_016881382.1:n.-278+71_-278+73del
XR_001753256.1:n.2920+71_2920+73del
XR_001753257.1:n.2920+71_2920+73del
XR_935244.1:n.2938+71_2938+73del