Canonical Allele Identifier: CA2579487677

Gene: GLE1

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