Canonical Allele Identifier: CA2300599492

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45930563_45930565delinsTAG , CM000680.2:g.45930563_45930565delinsTAG	GRCh38
NC_000018.9:g.43510529_43510531delinsTAG , CM000680.1:g.43510529_43510531delinsTAG	GRCh37
NC_000018.8:g.41764527_41764529delinsTAG	NCBI36
NG_042838.1:g.41775_41777delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.2412+111_2412+113delinsCTA	ENSP00000466990.2:n.2412+111_2412+113delinsCTA
ENST00000590884.6:c.2412+111_2412+113delinsCTA	ENSP00000466403.2:n.2412+111_2412+113delinsCTA
ENST00000592272.6:c.2412+111_2412+113delinsCTA	ENSP00000467464.2:n.2412+111_2412+113delinsCTA
ENST00000696480.1:n.1353+111_1353+113delinsCTA
ENST00000696482.1:c.2412+111_2412+113delinsCTA	ENSP00000512656.1:n.2412+111_2412+113delinsCTA
ENST00000696483.1:c.2412+111_2412+113delinsCTA	ENSP00000512657.1:n.2412+111_2412+113delinsCTA
ENST00000696484.1:c.2412+111_2412+113delinsCTA	ENSP00000512658.1:n.2412+111_2412+113delinsCTA
ENST00000696485.1:c.2412+111_2412+113delinsCTA	ENSP00000512659.1:n.2412+111_2412+113delinsCTA
ENST00000696489.1:c.2412+111_2412+113delinsCTA	ENSP00000512660.1:n.2412+111_2412+113delinsCTA
ENST00000696490.1:c.2412+111_2412+113delinsCTA	ENSP00000512661.1:n.2412+111_2412+113delinsCTA
ENST00000282041.11:c.2412+111_2412+113delinsCTA MANE Select	ENSP00000282041.4:n.2412+111_2412+113delinsCTA
ENST00000282041.9:c.2412+111_2412+113delinsCTA	ENSP00000282041.4:n.2412+111_2412+113delinsCTA
ENST00000587974.1:n.2447+111_2447+113delinsCTA
NM_020964.2:c.2412+111_2412+113delinsCTA	NP_066015.2:n.2412+111_2412+113delinsCTA
XM_011526120.1:c.2412+111_2412+113delinsCTA	XP_011524422.1:n.2412+111_2412+113delinsCTA
XM_011526121.1:c.2412+111_2412+113delinsCTA	XP_011524423.1:n.2412+111_2412+113delinsCTA
XM_011526122.1:c.2412+111_2412+113delinsCTA	XP_011524424.1:n.2412+111_2412+113delinsCTA
XM_011526123.1:c.2412+111_2412+113delinsCTA	XP_011524425.1:n.2412+111_2412+113delinsCTA
XM_011526124.1:c.2412+111_2412+113delinsCTA	XP_011524426.1:n.2412+111_2412+113delinsCTA
XM_011526125.1:c.2412+111_2412+113delinsCTA	XP_011524427.1:n.2412+111_2412+113delinsCTA
XM_011526126.1:c.1347+111_1347+113delinsCTA	XP_011524428.1:n.1347+111_1347+113delinsCTA
XM_011526127.1:c.2412+111_2412+113delinsCTA	XP_011524429.1:n.2412+111_2412+113delinsCTA
XM_011526128.1:c.2412+111_2412+113delinsCTA	XP_011524430.1:n.2412+111_2412+113delinsCTA
XR_935244.1:n.2512+111_2512+113delinsCTA
NM_020964.3:c.2412+111_2412+113delinsCTA MANE Select	NP_066015.2:n.2412+111_2412+113delinsCTA
XM_017025889.1:c.2412+111_2412+113delinsCTA	XP_016881378.1:n.2412+111_2412+113delinsCTA
XM_017025890.2:c.2412+111_2412+113delinsCTA	XP_016881379.1:n.2412+111_2412+113delinsCTA
XM_017025891.1:c.2412+111_2412+113delinsCTA	XP_016881380.1:n.2412+111_2412+113delinsCTA
XM_017025892.1:c.1347+111_1347+113delinsCTA	XP_016881381.1:n.1347+111_1347+113delinsCTA
XM_017025893.1:c.-704+111_-704+113delinsCTA	XP_016881382.1:n.-704+111_-704+113delinsCTA
XR_001753256.1:n.2494+111_2494+113delinsCTA
XR_001753257.1:n.2494+111_2494+113delinsCTA