Canonical Allele Identifier: CA5264016

Gene: GLE1

Linked Data

• dbSNP Id: rs759161663
• ExAC: 9:131302508 AGGTGT / A
• gnomAD v2: 9-131302508-AGGTGT-A
• gnomAD v4: 9-128540229-AGGTGT-A
• MyVariant Identifiers: chr9:g.131302509_131302513del (hg19) ; chr9:g.128540230_128540234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540230_128540234del , CM000671.2:g.128540230_128540234del	GRCh38
NC_000009.11:g.131302509_131302513del , CM000671.1:g.131302509_131302513del	GRCh37
NC_000009.10:g.130342330_130342334del	NCBI36
NG_012073.1:g.40539_40543del , LRG_484:g.40539_40543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1036-45_*1036-41del	ENSP00000507095.1:n.*1036-45_*1036-41del
ENST00000683288.1:c.*1964-45_*1964-41del	ENSP00000507477.1:n.*1964-45_*1964-41del
ENST00000683748.1:c.1992-45_1992-41del	ENSP00000507377.1:n.1992-45_1992-41del
ENST00000683905.1:c.*641-45_*641-41del	ENSP00000506960.1:n.*641-45_*641-41del
ENST00000684139.1:c.1500-45_1500-41del	ENSP00000507295.1:n.1500-45_1500-41del
ENST00000684210.1:n.1678-45_1678-41del
ENST00000684314.1:c.1860-45_1860-41del	ENSP00000507700.1:n.1860-45_1860-41del
ENST00000684331.1:c.1965-45_1965-41del	ENSP00000507431.1:n.1965-45_1965-41del
ENST00000684463.1:n.603-45_603-41del
ENST00000684646.1:c.1752-45_1752-41del	ENSP00000507723.1:n.1752-45_1752-41del
ENST00000309971.9:c.1965-45_1965-41del MANE Select	ENSP00000308622.5:n.1965-45_1965-41del
ENST00000309971.8:c.1965-45_1965-41del	ENSP00000308622.4:n.1965-45_1965-41del
NM_001003722.1:c.1965-45_1965-41del , LRG_484t1:c.1965-45_1965-41del	NP_001003722.1:n.1965-45_1965-41del
XM_006717059.2:c.2001-45_2001-41del	XP_006717122.1:n.2001-45_2001-41del
XM_006717060.2:c.1974-45_1974-41del	XP_006717123.1:n.1974-45_1974-41del
XM_011518549.1:c.2001-45_2001-41del	XP_011516851.1:n.2001-45_2001-41del
XM_011518550.1:c.2001-45_2001-41del	XP_011516852.1:n.2001-45_2001-41del
XM_011518551.1:c.1992-45_1992-41del	XP_011516853.1:n.1992-45_1992-41del
XM_011518552.1:c.1242-45_1242-41del	XP_011516854.1:n.1242-45_1242-41del
XR_242681.3:n.100+3145_100+3149del
XR_428600.2:n.124+736_124+740del
XM_006717059.3:c.2001-45_2001-41del	XP_006717122.1:n.2001-45_2001-41del
XM_006717060.3:c.1974-45_1974-41del	XP_006717123.1:n.1974-45_1974-41del
XM_011518551.2:c.1992-45_1992-41del	XP_011516853.1:n.1992-45_1992-41del
XM_024447519.1:c.1974-45_1974-41del	XP_024303287.1:n.1974-45_1974-41del
XR_428600.3:n.126+736_126+740del
NM_001003722.2:c.1965-45_1965-41del MANE Select	NP_001003722.1:n.1965-45_1965-41del