Canonical Allele Identifier: CA5264030

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2770034
• ClinVar RCV Id: RCV003579005
• dbSNP Id: rs762813218
• ExAC: 9:131302595 T / TA
• gnomAD v2: 9-131302595-T-TA
• gnomAD v4: 9-128540316-T-TA
• MyVariant Identifiers: chr9:g.131302595_131302596insA (hg19) ; chr9:g.128540316_128540317insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540317dup , CM000671.2:g.128540317dup	GRCh38
NC_000009.11:g.131302596dup , CM000671.1:g.131302596dup	GRCh37
NC_000009.10:g.130342417dup	NCBI36
NG_012073.1:g.40626dup , LRG_484:g.40626dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1078dup	ENSP00000507095.1:n.*1078dup
ENST00000683288.1:c.*2006dup	ENSP00000507477.1:n.*2006dup
ENST00000683748.1:c.2034dup	ENSP00000507377.1:p.Arg679ThrfsTer?
ENST00000683905.1:c.*683dup	ENSP00000506960.1:n.*683dup
ENST00000684139.1:c.1542dup	ENSP00000507295.1:p.Arg515ThrfsTer?
ENST00000684210.1:n.1720dup
ENST00000684314.1:c.1902dup	ENSP00000507700.1:p.Arg635ThrfsTer?
ENST00000684331.1:c.2007dup	ENSP00000507431.1:p.Arg670ThrfsTer?
ENST00000684463.1:n.645dup
ENST00000684646.1:c.1794dup	ENSP00000507723.1:p.Arg599ThrfsTer?
ENST00000309971.9:c.2007dup MANE Select	ENSP00000308622.5:p.Arg670ThrfsTer?
ENST00000309971.8:c.2007dup	ENSP00000308622.4:p.Arg670ThrfsTer?
NM_001003722.1:c.2007dup , LRG_484t1:c.2007dup	NP_001003722.1:p.Arg670ThrfsTer?
XM_006717059.2:c.2043dup	XP_006717122.1:p.Arg682ThrfsTer?
XM_006717060.2:c.2016dup	XP_006717123.1:p.Arg673ThrfsTer?
XM_011518549.1:c.2043dup	XP_011516851.1:p.Arg682ThrfsTer?
XM_011518550.1:c.2043dup	XP_011516852.1:p.Arg682ThrfsTer?
XM_011518551.1:c.2034dup	XP_011516853.1:p.Arg679ThrfsTer?
XM_011518552.1:c.1284dup	XP_011516854.1:p.Arg429ThrfsTer?
XR_242681.3:n.100+3062dup
XR_428600.2:n.124+653dup
XM_006717059.3:c.2043dup	XP_006717122.1:p.Arg682ThrfsTer?
XM_006717060.3:c.2016dup	XP_006717123.1:p.Arg673ThrfsTer?
XM_011518551.2:c.2034dup	XP_011516853.1:p.Arg679ThrfsTer?
XM_024447519.1:c.2016dup	XP_024303287.1:p.Arg673ThrfsTer?
XR_428600.3:n.126+653dup
NM_001003722.2:c.2007dup MANE Select	NP_001003722.1:p.Arg670ThrfsTer?