Canonical Allele Identifier: CA2691925826

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541153-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541155del , CM000671.2:g.128541155del	GRCh38
NC_000009.11:g.131303434del , CM000671.1:g.131303434del	GRCh37
NC_000009.10:g.130343255del	NCBI36
NG_012073.1:g.41464del , LRG_484:g.41464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1153del	ENSP00000507095.1:n.*1153del
ENST00000683288.1:c.*2081del	ENSP00000507477.1:n.*2081del
ENST00000683748.1:c.2109del	ENSP00000507377.1:p.Phe704SerfsTer20
ENST00000683905.1:c.*758del	ENSP00000506960.1:n.*758del
ENST00000684139.1:c.1617del	ENSP00000507295.1:p.Phe540SerfsTer20
ENST00000684210.1:n.1795del
ENST00000684314.1:c.1977del	ENSP00000507700.1:p.Phe660SerfsTer20
ENST00000684331.1:c.*802del	ENSP00000507431.1:n.*802del
ENST00000684463.1:n.720del
ENST00000684646.1:c.1869del	ENSP00000507723.1:p.Phe624SerfsTer20
ENST00000309971.9:c.2082del MANE Select	ENSP00000308622.5:p.Phe695SerfsTer20
ENST00000309971.8:c.2082del	ENSP00000308622.4:p.Phe695SerfsTer20
NM_001003722.1:c.2082del , LRG_484t1:c.2082del	NP_001003722.1:p.Phe695SerfsTer20
XM_006717059.2:c.2118del	XP_006717122.1:p.Phe707SerfsTer20
XM_006717060.2:c.2091del	XP_006717123.1:p.Phe698SerfsTer20
XM_011518549.1:c.2118del	XP_011516851.1:p.Phe707SerfsTer20
XM_011518550.1:c.2118del	XP_011516852.1:p.Phe707SerfsTer20
XM_011518551.1:c.2109del	XP_011516853.1:p.Phe704SerfsTer20
XM_011518552.1:c.1359del	XP_011516854.1:p.Phe454SerfsTer20
XR_242681.3:n.100+2225del
XM_006717059.3:c.2118del	XP_006717122.1:p.Phe707SerfsTer20
XM_006717060.3:c.2091del	XP_006717123.1:p.Phe698SerfsTer20
XM_011518551.2:c.2109del	XP_011516853.1:p.Phe704SerfsTer20
XM_024447519.1:c.2091del	XP_024303287.1:p.Phe698SerfsTer20
NM_001003722.2:c.2082del MANE Select	NP_001003722.1:p.Phe695SerfsTer20