Canonical Allele Identifier: CA1129340037

Gene: GLE1

Linked Data

• dbSNP Id: rs1847860226
• gnomAD v3: 9-128540661-GGTAA-G
• gnomAD v4: 9-128540661-GGTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540664_128540667del , CM000671.2:g.128540664_128540667del	GRCh38
NC_000009.11:g.131302943_131302946del , CM000671.1:g.131302943_131302946del	GRCh37
NC_000009.10:g.130342764_130342767del	NCBI36
NG_012073.1:g.40973_40976del , LRG_484:g.40973_40976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1099+326_*1099+329del	ENSP00000507095.1:n.*1099+326_*1099+329del
ENST00000683288.1:c.*2027+326_*2027+329del	ENSP00000507477.1:n.*2027+326_*2027+329del
ENST00000683748.1:c.2055+326_2055+329del	ENSP00000507377.1:n.2055+326_2055+329del
ENST00000683905.1:c.*704+326_*704+329del	ENSP00000506960.1:n.*704+326_*704+329del
ENST00000684139.1:c.1563+326_1563+329del	ENSP00000507295.1:n.1563+326_1563+329del
ENST00000684210.1:n.1741+326_1741+329del
ENST00000684314.1:c.1923+326_1923+329del	ENSP00000507700.1:n.1923+326_1923+329del
ENST00000684331.1:c.*311_*314del	ENSP00000507431.1:n.*311_*314del
ENST00000684463.1:n.666+326_666+329del
ENST00000684646.1:c.1815+326_1815+329del	ENSP00000507723.1:n.1815+326_1815+329del
ENST00000309971.9:c.2028+326_2028+329del MANE Select	ENSP00000308622.5:n.2028+326_2028+329del
ENST00000309971.8:c.2028+326_2028+329del	ENSP00000308622.4:n.2028+326_2028+329del
NM_001003722.1:c.2028+326_2028+329del , LRG_484t1:c.2028+326_2028+329del	NP_001003722.1:n.2028+326_2028+329del
XM_006717059.2:c.2064+326_2064+329del	XP_006717122.1:n.2064+326_2064+329del
XM_006717060.2:c.2037+326_2037+329del	XP_006717123.1:n.2037+326_2037+329del
XM_011518549.1:c.2064+326_2064+329del	XP_011516851.1:n.2064+326_2064+329del
XM_011518550.1:c.2064+326_2064+329del	XP_011516852.1:n.2064+326_2064+329del
XM_011518551.1:c.2055+326_2055+329del	XP_011516853.1:n.2055+326_2055+329del
XM_011518552.1:c.1305+326_1305+329del	XP_011516854.1:n.1305+326_1305+329del
XR_242681.3:n.100+2714_100+2717del
XR_428600.2:n.124+305_124+308del
XM_006717059.3:c.2064+326_2064+329del	XP_006717122.1:n.2064+326_2064+329del
XM_006717060.3:c.2037+326_2037+329del	XP_006717123.1:n.2037+326_2037+329del
XM_011518551.2:c.2055+326_2055+329del	XP_011516853.1:n.2055+326_2055+329del
XM_024447519.1:c.2037+326_2037+329del	XP_024303287.1:n.2037+326_2037+329del
XR_428600.3:n.126+305_126+308del
NM_001003722.2:c.2028+326_2028+329del MANE Select	NP_001003722.1:n.2028+326_2028+329del