Canonical Allele Identifier: CA2812343226

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45930321_45930322insAGAT , CM000680.2:g.45930321_45930322insAGAT	GRCh38
NC_000018.9:g.43510287_43510288insAGAT , CM000680.1:g.43510287_43510288insAGAT	GRCh37
NC_000018.8:g.41764285_41764286insAGAT	NCBI36
NG_042838.1:g.42018_42019insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.2412+354_2412+355insATCT	ENSP00000466990.2:n.2412+354_2412+355insATCT
ENST00000590884.6:c.2412+354_2412+355insATCT	ENSP00000466403.2:n.2412+354_2412+355insATCT
ENST00000592272.6:c.2412+354_2412+355insATCT	ENSP00000467464.2:n.2412+354_2412+355insATCT
ENST00000696480.1:n.1353+354_1353+355insATCT
ENST00000696482.1:c.2412+354_2412+355insATCT	ENSP00000512656.1:n.2412+354_2412+355insATCT
ENST00000696483.1:c.2412+354_2412+355insATCT	ENSP00000512657.1:n.2412+354_2412+355insATCT
ENST00000696484.1:c.2412+354_2412+355insATCT	ENSP00000512658.1:n.2412+354_2412+355insATCT
ENST00000696485.1:c.2412+354_2412+355insATCT	ENSP00000512659.1:n.2412+354_2412+355insATCT
ENST00000696489.1:c.2412+354_2412+355insATCT	ENSP00000512660.1:n.2412+354_2412+355insATCT
ENST00000696490.1:c.2412+354_2412+355insATCT	ENSP00000512661.1:n.2412+354_2412+355insATCT
ENST00000282041.11:c.2412+354_2412+355insATCT MANE Select	ENSP00000282041.4:n.2412+354_2412+355insATCT
ENST00000282041.9:c.2412+354_2412+355insATCT	ENSP00000282041.4:n.2412+354_2412+355insATCT
ENST00000587974.1:n.2447+354_2447+355insATCT
NM_020964.2:c.2412+354_2412+355insATCT	NP_066015.2:n.2412+354_2412+355insATCT
XM_011526120.1:c.2412+354_2412+355insATCT	XP_011524422.1:n.2412+354_2412+355insATCT
XM_011526121.1:c.2412+354_2412+355insATCT	XP_011524423.1:n.2412+354_2412+355insATCT
XM_011526122.1:c.2412+354_2412+355insATCT	XP_011524424.1:n.2412+354_2412+355insATCT
XM_011526123.1:c.2412+354_2412+355insATCT	XP_011524425.1:n.2412+354_2412+355insATCT
XM_011526124.1:c.2412+354_2412+355insATCT	XP_011524426.1:n.2412+354_2412+355insATCT
XM_011526125.1:c.2412+354_2412+355insATCT	XP_011524427.1:n.2412+354_2412+355insATCT
XM_011526126.1:c.1347+354_1347+355insATCT	XP_011524428.1:n.1347+354_1347+355insATCT
XM_011526127.1:c.2412+354_2412+355insATCT	XP_011524429.1:n.2412+354_2412+355insATCT
XM_011526128.1:c.2412+354_2412+355insATCT	XP_011524430.1:n.2412+354_2412+355insATCT
XR_935244.1:n.2512+354_2512+355insATCT
NM_020964.3:c.2412+354_2412+355insATCT MANE Select	NP_066015.2:n.2412+354_2412+355insATCT
XM_017025889.1:c.2412+354_2412+355insATCT	XP_016881378.1:n.2412+354_2412+355insATCT
XM_017025890.2:c.2412+354_2412+355insATCT	XP_016881379.1:n.2412+354_2412+355insATCT
XM_017025891.1:c.2412+354_2412+355insATCT	XP_016881380.1:n.2412+354_2412+355insATCT
XM_017025892.1:c.1347+354_1347+355insATCT	XP_016881381.1:n.1347+354_1347+355insATCT
XM_017025893.1:c.-704+354_-704+355insATCT	XP_016881382.1:n.-704+354_-704+355insATCT
XR_001753256.1:n.2494+354_2494+355insATCT
XR_001753257.1:n.2494+354_2494+355insATCT