Canonical Allele Identifier: CA2691925825

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541118-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541120del , CM000671.2:g.128541120del	GRCh38
NC_000009.11:g.131303399del , CM000671.1:g.131303399del	GRCh37
NC_000009.10:g.130343220del	NCBI36
NG_012073.1:g.41429del , LRG_484:g.41429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1118del	ENSP00000507095.1:n.*1118del
ENST00000683288.1:c.*2046del	ENSP00000507477.1:n.*2046del
ENST00000683748.1:c.2074del	ENSP00000507377.1:p.Asp692ThrfsTer9
ENST00000683905.1:c.*723del	ENSP00000506960.1:n.*723del
ENST00000684139.1:c.1582del	ENSP00000507295.1:p.Asp528ThrfsTer9
ENST00000684210.1:n.1760del
ENST00000684314.1:c.1942del	ENSP00000507700.1:p.Asp648ThrfsTer9
ENST00000684331.1:c.*767del	ENSP00000507431.1:n.*767del
ENST00000684463.1:n.685del
ENST00000684646.1:c.1834del	ENSP00000507723.1:p.Asp612ThrfsTer9
ENST00000309971.9:c.2047del MANE Select	ENSP00000308622.5:p.Asp683ThrfsTer9
ENST00000309971.8:c.2047del	ENSP00000308622.4:p.Asp683ThrfsTer9
NM_001003722.1:c.2047del , LRG_484t1:c.2047del	NP_001003722.1:p.Asp683ThrfsTer9
XM_006717059.2:c.2083del	XP_006717122.1:p.Asp695ThrfsTer9
XM_006717060.2:c.2056del	XP_006717123.1:p.Asp686ThrfsTer9
XM_011518549.1:c.2083del	XP_011516851.1:p.Asp695ThrfsTer9
XM_011518550.1:c.2083del	XP_011516852.1:p.Asp695ThrfsTer9
XM_011518551.1:c.2074del	XP_011516853.1:p.Asp692ThrfsTer9
XM_011518552.1:c.1324del	XP_011516854.1:p.Asp442ThrfsTer9
XR_242681.3:n.100+2260del
XM_006717059.3:c.2083del	XP_006717122.1:p.Asp695ThrfsTer9
XM_006717060.3:c.2056del	XP_006717123.1:p.Asp686ThrfsTer9
XM_011518551.2:c.2074del	XP_011516853.1:p.Asp692ThrfsTer9
XM_024447519.1:c.2056del	XP_024303287.1:p.Asp686ThrfsTer9
NM_001003722.2:c.2047del MANE Select	NP_001003722.1:p.Asp683ThrfsTer9