Canonical Allele Identifier: CA2579487678

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541153del , CM000671.2:g.128541153del	GRCh38
NC_000009.11:g.131303432del , CM000671.1:g.131303432del	GRCh37
NC_000009.10:g.130343253del	NCBI36
NG_012073.1:g.41462del , LRG_484:g.41462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1151del	ENSP00000507095.1:n.*1151del
ENST00000683288.1:c.*2079del	ENSP00000507477.1:n.*2079del
ENST00000683748.1:c.2107del	ENSP00000507377.1:p.Ser703ProfsTer21
ENST00000683905.1:c.*756del	ENSP00000506960.1:n.*756del
ENST00000684139.1:c.1615del	ENSP00000507295.1:p.Ser539ProfsTer21
ENST00000684210.1:n.1793del
ENST00000684314.1:c.1975del	ENSP00000507700.1:p.Ser659ProfsTer21
ENST00000684331.1:c.*800del	ENSP00000507431.1:n.*800del
ENST00000684463.1:n.718del
ENST00000684646.1:c.1867del	ENSP00000507723.1:p.Ser623ProfsTer21
ENST00000309971.9:c.2080del MANE Select	ENSP00000308622.5:p.Ser694ProfsTer21
ENST00000309971.8:c.2080del	ENSP00000308622.4:p.Ser694ProfsTer21
NM_001003722.1:c.2080del , LRG_484t1:c.2080del	NP_001003722.1:p.Ser694ProfsTer21
XM_006717059.2:c.2116del	XP_006717122.1:p.Ser706ProfsTer21
XM_006717060.2:c.2089del	XP_006717123.1:p.Ser697ProfsTer21
XM_011518549.1:c.2116del	XP_011516851.1:p.Ser706ProfsTer21
XM_011518550.1:c.2116del	XP_011516852.1:p.Ser706ProfsTer21
XM_011518551.1:c.2107del	XP_011516853.1:p.Ser703ProfsTer21
XM_011518552.1:c.1357del	XP_011516854.1:p.Ser453ProfsTer21
XR_242681.3:n.100+2226del
XM_006717059.3:c.2116del	XP_006717122.1:p.Ser706ProfsTer21
XM_006717060.3:c.2089del	XP_006717123.1:p.Ser697ProfsTer21
XM_011518551.2:c.2107del	XP_011516853.1:p.Ser703ProfsTer21
XM_024447519.1:c.2089del	XP_024303287.1:p.Ser697ProfsTer21
NM_001003722.2:c.2080del MANE Select	NP_001003722.1:p.Ser694ProfsTer21