Canonical Allele Identifier: CA2300599478

Gene: EPG5

Linked Data

• dbSNP Id: rs2050375937
• gnomAD v4: 18-45930542-CTCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45930545_45930548del , CM000680.2:g.45930545_45930548del	GRCh38
NC_000018.9:g.43510511_43510514del , CM000680.1:g.43510511_43510514del	GRCh37
NC_000018.8:g.41764509_41764512del	NCBI36
NG_042838.1:g.41794_41797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.2412+130_2412+133del	ENSP00000466990.2:n.2412+130_2412+133del
ENST00000590884.6:c.2412+130_2412+133del	ENSP00000466403.2:n.2412+130_2412+133del
ENST00000592272.6:c.2412+130_2412+133del	ENSP00000467464.2:n.2412+130_2412+133del
ENST00000696480.1:n.1353+130_1353+133del
ENST00000696482.1:c.2412+130_2412+133del	ENSP00000512656.1:n.2412+130_2412+133del
ENST00000696483.1:c.2412+130_2412+133del	ENSP00000512657.1:n.2412+130_2412+133del
ENST00000696484.1:c.2412+130_2412+133del	ENSP00000512658.1:n.2412+130_2412+133del
ENST00000696485.1:c.2412+130_2412+133del	ENSP00000512659.1:n.2412+130_2412+133del
ENST00000696489.1:c.2412+130_2412+133del	ENSP00000512660.1:n.2412+130_2412+133del
ENST00000696490.1:c.2412+130_2412+133del	ENSP00000512661.1:n.2412+130_2412+133del
ENST00000282041.11:c.2412+130_2412+133del MANE Select	ENSP00000282041.4:n.2412+130_2412+133del
ENST00000282041.9:c.2412+130_2412+133del	ENSP00000282041.4:n.2412+130_2412+133del
ENST00000587974.1:n.2447+130_2447+133del
NM_020964.2:c.2412+130_2412+133del	NP_066015.2:n.2412+130_2412+133del
XM_011526120.1:c.2412+130_2412+133del	XP_011524422.1:n.2412+130_2412+133del
XM_011526121.1:c.2412+130_2412+133del	XP_011524423.1:n.2412+130_2412+133del
XM_011526122.1:c.2412+130_2412+133del	XP_011524424.1:n.2412+130_2412+133del
XM_011526123.1:c.2412+130_2412+133del	XP_011524425.1:n.2412+130_2412+133del
XM_011526124.1:c.2412+130_2412+133del	XP_011524426.1:n.2412+130_2412+133del
XM_011526125.1:c.2412+130_2412+133del	XP_011524427.1:n.2412+130_2412+133del
XM_011526126.1:c.1347+130_1347+133del	XP_011524428.1:n.1347+130_1347+133del
XM_011526127.1:c.2412+130_2412+133del	XP_011524429.1:n.2412+130_2412+133del
XM_011526128.1:c.2412+130_2412+133del	XP_011524430.1:n.2412+130_2412+133del
XR_935244.1:n.2512+130_2512+133del
NM_020964.3:c.2412+130_2412+133del MANE Select	NP_066015.2:n.2412+130_2412+133del
XM_017025889.1:c.2412+130_2412+133del	XP_016881378.1:n.2412+130_2412+133del
XM_017025890.2:c.2412+130_2412+133del	XP_016881379.1:n.2412+130_2412+133del
XM_017025891.1:c.2412+130_2412+133del	XP_016881380.1:n.2412+130_2412+133del
XM_017025892.1:c.1347+130_1347+133del	XP_016881381.1:n.1347+130_1347+133del
XM_017025893.1:c.-704+130_-704+133del	XP_016881382.1:n.-704+130_-704+133del
XR_001753256.1:n.2494+130_2494+133del
XR_001753257.1:n.2494+130_2494+133del