Canonical Allele Identifier: CA2691925804
Gene: GLE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540623_128540630del , CM000671.2:g.128540623_128540630del GRCh38
NC_000009.11:g.131302902_131302909del , CM000671.1:g.131302902_131302909del GRCh37
NC_000009.10:g.130342723_130342730del NCBI36
NG_012073.1:g.40932_40939del , LRG_484:g.40932_40939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1099+285_*1099+292del ENSP00000507095.1:n.*1099+285_*1099+292del
ENST00000683288.1:c.*2027+285_*2027+292del ENSP00000507477.1:n.*2027+285_*2027+292del
ENST00000683748.1:c.2055+285_2055+292del ENSP00000507377.1:n.2055+285_2055+292del
ENST00000683905.1:c.*704+285_*704+292del ENSP00000506960.1:n.*704+285_*704+292del
ENST00000684139.1:c.1563+285_1563+292del ENSP00000507295.1:n.1563+285_1563+292del
ENST00000684210.1:n.1741+285_1741+292del
ENST00000684314.1:c.1923+285_1923+292del ENSP00000507700.1:n.1923+285_1923+292del
ENST00000684331.1:c.*270_*277del ENSP00000507431.1:n.*270_*277del
ENST00000684463.1:n.666+285_666+292del
ENST00000684646.1:c.1815+285_1815+292del ENSP00000507723.1:n.1815+285_1815+292del
ENST00000309971.9:c.2028+285_2028+292del MANE Select ENSP00000308622.5:n.2028+285_2028+292del
ENST00000309971.8:c.2028+285_2028+292del ENSP00000308622.4:n.2028+285_2028+292del
NM_001003722.1:c.2028+285_2028+292del , LRG_484t1:c.2028+285_2028+292del NP_001003722.1:n.2028+285_2028+292del
XM_006717059.2:c.2064+285_2064+292del XP_006717122.1:n.2064+285_2064+292del
XM_006717060.2:c.2037+285_2037+292del XP_006717123.1:n.2037+285_2037+292del
XM_011518549.1:c.2064+285_2064+292del XP_011516851.1:n.2064+285_2064+292del
XM_011518550.1:c.2064+285_2064+292del XP_011516852.1:n.2064+285_2064+292del
XM_011518551.1:c.2055+285_2055+292del XP_011516853.1:n.2055+285_2055+292del
XM_011518552.1:c.1305+285_1305+292del XP_011516854.1:n.1305+285_1305+292del
XR_242681.3:n.100+2749_100+2756del
XR_428600.2:n.124+340_124+347del
XM_006717059.3:c.2064+285_2064+292del XP_006717122.1:n.2064+285_2064+292del
XM_006717060.3:c.2037+285_2037+292del XP_006717123.1:n.2037+285_2037+292del
XM_011518551.2:c.2055+285_2055+292del XP_011516853.1:n.2055+285_2055+292del
XM_024447519.1:c.2037+285_2037+292del XP_024303287.1:n.2037+285_2037+292del
XR_428600.3:n.126+340_126+347del
NM_001003722.2:c.2028+285_2028+292del MANE Select NP_001003722.1:n.2028+285_2028+292del