Canonical Allele Identifier: CA2579487677
Gene: GLE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128541125del , CM000671.2:g.128541125del GRCh38
NC_000009.11:g.131303404del , CM000671.1:g.131303404del GRCh37
NC_000009.10:g.130343225del NCBI36
NG_012073.1:g.41434del , LRG_484:g.41434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1123del ENSP00000507095.1:n.*1123del
ENST00000683288.1:c.*2051del ENSP00000507477.1:n.*2051del
ENST00000683748.1:c.2079del ENSP00000507377.1:p.Pro694LeufsTer7
ENST00000683905.1:c.*728del ENSP00000506960.1:n.*728del
ENST00000684139.1:c.1587del ENSP00000507295.1:p.Pro530LeufsTer7
ENST00000684210.1:n.1765del
ENST00000684314.1:c.1947del ENSP00000507700.1:p.Pro650LeufsTer7
ENST00000684331.1:c.*772del ENSP00000507431.1:n.*772del
ENST00000684463.1:n.690del
ENST00000684646.1:c.1839del ENSP00000507723.1:p.Pro614LeufsTer7
ENST00000309971.9:c.2052del MANE Select ENSP00000308622.5:p.Pro685LeufsTer7
ENST00000309971.8:c.2052del ENSP00000308622.4:p.Pro685LeufsTer7
NM_001003722.1:c.2052del , LRG_484t1:c.2052del NP_001003722.1:p.Pro685LeufsTer7
XM_006717059.2:c.2088del XP_006717122.1:p.Pro697LeufsTer7
XM_006717060.2:c.2061del XP_006717123.1:p.Pro688LeufsTer7
XM_011518549.1:c.2088del XP_011516851.1:p.Pro697LeufsTer7
XM_011518550.1:c.2088del XP_011516852.1:p.Pro697LeufsTer7
XM_011518551.1:c.2079del XP_011516853.1:p.Pro694LeufsTer7
XM_011518552.1:c.1329del XP_011516854.1:p.Pro444LeufsTer7
XR_242681.3:n.100+2255del
XM_006717059.3:c.2088del XP_006717122.1:p.Pro697LeufsTer7
XM_006717060.3:c.2061del XP_006717123.1:p.Pro688LeufsTer7
XM_011518551.2:c.2079del XP_011516853.1:p.Pro694LeufsTer7
XM_024447519.1:c.2061del XP_024303287.1:p.Pro688LeufsTer7
NM_001003722.2:c.2052del MANE Select NP_001003722.1:p.Pro685LeufsTer7