Canonical Allele Identifier: CA860266917

Gene: GLE1

Linked Data

• dbSNP Id: rs1454912743
• gnomAD v4: 9-128541139-GCTTT-G
• MyVariant Identifiers: chr9:g.131303419_131303422del (hg19) ; chr9:g.128541140_128541143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541142_128541145del , CM000671.2:g.128541142_128541145del	GRCh38
NC_000009.11:g.131303421_131303424del , CM000671.1:g.131303421_131303424del	GRCh37
NC_000009.10:g.130343242_130343245del	NCBI36
NG_012073.1:g.41451_41454del , LRG_484:g.41451_41454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1140_*1143del	ENSP00000507095.1:n.*1140_*1143del
ENST00000683288.1:c.*2068_*2071del	ENSP00000507477.1:n.*2068_*2071del
ENST00000683748.1:c.2096_2099del	ENSP00000507377.1:p.Phe699Ter
ENST00000683905.1:c.*745_*748del	ENSP00000506960.1:n.*745_*748del
ENST00000684139.1:c.1604_1607del	ENSP00000507295.1:p.Phe535Ter
ENST00000684210.1:n.1782_1785del
ENST00000684314.1:c.1964_1967del	ENSP00000507700.1:p.Phe655Ter
ENST00000684331.1:c.*789_*792del	ENSP00000507431.1:n.*789_*792del
ENST00000684463.1:n.707_710del
ENST00000684646.1:c.1856_1859del	ENSP00000507723.1:p.Phe619Ter
ENST00000309971.9:c.2069_2072del MANE Select	ENSP00000308622.5:p.Phe690Ter
ENST00000309971.8:c.2069_2072del	ENSP00000308622.4:p.Phe690Ter
NM_001003722.1:c.2069_2072del , LRG_484t1:c.2069_2072del	NP_001003722.1:p.Phe690Ter
XM_006717059.2:c.2105_2108del	XP_006717122.1:p.Phe702Ter
XM_006717060.2:c.2078_2081del	XP_006717123.1:p.Phe693Ter
XM_011518549.1:c.2105_2108del	XP_011516851.1:p.Phe702Ter
XM_011518550.1:c.2105_2108del	XP_011516852.1:p.Phe702Ter
XM_011518551.1:c.2096_2099del	XP_011516853.1:p.Phe699Ter
XM_011518552.1:c.1346_1349del	XP_011516854.1:p.Phe449Ter
XR_242681.3:n.100+2236_100+2239del
XM_006717059.3:c.2105_2108del	XP_006717122.1:p.Phe702Ter
XM_006717060.3:c.2078_2081del	XP_006717123.1:p.Phe693Ter
XM_011518551.2:c.2096_2099del	XP_011516853.1:p.Phe699Ter
XM_024447519.1:c.2078_2081del	XP_024303287.1:p.Phe693Ter
NM_001003722.2:c.2069_2072del MANE Select	NP_001003722.1:p.Phe690Ter