Canonical Allele Identifier: CA2580095712
Community Standard Title: NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882387_45882388delinsAA , CM000680.2:g.45882387_45882388delinsAA GRCh38
NC_000018.9:g.43462352_43462353delinsAA , CM000680.1:g.43462352_43462353delinsAA GRCh37
NC_000018.8:g.41716350_41716351delinsAA NCBI36
NG_042838.1:g.89952_89953delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5404_5405delinsTT MANE Select NP_066015.2:p.Glu1802Leu
ENST00000282041.11:c.5404_5405delinsTT MANE Select ENSP00000282041.4:p.Glu1802Leu
NM_020964.2:c.5404_5405delinsTT NP_066015.2:p.Glu1802Leu
ENST00000282041.9:c.5404_5405delinsTT ENSP00000282041.4:p.Glu1802Leu
ENST00000585906.5:n.2183_2184delinsTT
ENST00000586655.2:n.3665_3666delinsTT
ENST00000587884.1:c.*1144_*1145delinsTT ENSP00000466990.1:n.*1144_*1145delinsTT
ENST00000587884.2:c.5530_5531delinsTT ENSP00000466990.2:n.5530_5531delinsTT
ENST00000587973.2:n.1269_1270delinsTT
ENST00000590884.5:c.1973_1974delinsTT ENSP00000466403.1:p.Ter658Phe
ENST00000590884.6:c.5348_5349delinsTT ENSP00000466403.2:p.Ter1783Phe
ENST00000592272.5:c.2029_2030delinsTT ENSP00000467464.1:p.Glu677Leu
ENST00000592272.6:c.5404_5405delinsTT ENSP00000467464.2:p.Glu1802Leu
ENST00000696481.1:n.2036_2037delinsTT
ENST00000696482.1:c.5144_5145delinsTT ENSP00000512656.1:n.5144_5145delinsTT
ENST00000696483.1:c.5404_5405delinsTT ENSP00000512657.1:p.Glu1802Leu
ENST00000696484.1:c.5404_5405delinsTT ENSP00000512658.1:p.Glu1802Leu
ENST00000696485.1:c.5348_5349delinsTT ENSP00000512659.1:p.Ter1783Phe
ENST00000696489.1:c.5404_5405delinsTT ENSP00000512660.1:p.Glu1802Leu
ENST00000696490.1:c.5404_5405delinsTT ENSP00000512661.1:p.Glu1802Leu
XM_011526120.1:c.5431_5432delinsTT XP_011524422.1:p.Glu1811Leu
XM_011526121.1:c.5431_5432delinsTT XP_011524423.1:p.Glu1811Leu
XM_011526122.1:c.5404_5405delinsTT XP_011524424.1:p.Glu1802Leu
XM_011526123.1:c.5431_5432delinsTT XP_011524425.1:p.Glu1811Leu
XM_011526124.1:c.5431_5432delinsTT XP_011524426.1:p.Glu1811Leu
XM_011526125.1:c.5290_5291delinsTT XP_011524427.1:p.Glu1764Leu
XM_011526126.1:c.4366_4367delinsTT XP_011524428.1:p.Glu1456Leu
XM_011526127.1:c.5431_5432delinsTT XP_011524429.1:p.Glu1811Leu
XM_011526128.1:c.5375_5376delinsTT XP_011524430.1:p.Ter1792Phe
XM_017025889.1:c.5404_5405delinsTT XP_016881378.1:p.Glu1802Leu
XM_017025890.2:c.5404_5405delinsTT XP_016881379.1:p.Glu1802Leu
XM_017025891.1:c.5263_5264delinsTT XP_016881380.1:p.Glu1755Leu
XM_017025892.1:c.4339_4340delinsTT XP_016881381.1:p.Glu1447Leu
XM_017025893.1:c.2029_2030delinsTT XP_016881382.1:p.Glu677Leu
XR_001753256.1:n.5486_5487delinsTT
XR_001753257.1:n.5430_5431delinsTT
XR_935244.1:n.5504_5505delinsTT