Canonical Allele Identifier: CA5264059

Gene: GLE1

Linked Data

• dbSNP Id: rs779144560
• ExAC: 9:131303390 C / CAACAA
• gnomAD v2: 9-131303390-C-CAACAA
• gnomAD v4: 9-128541111-C-CAACAA
• MyVariant Identifiers: chr9:g.131303390_131303391insAACAA (hg19) ; chr9:g.128541111_128541112insAACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541115_128541116insAAACA , CM000671.2:g.128541115_128541116insAAACA	GRCh38
NC_000009.11:g.131303394_131303395insAAACA , CM000671.1:g.131303394_131303395insAAACA	GRCh37
NC_000009.10:g.130343215_130343216insAAACA	NCBI36
NG_012073.1:g.41424_41425insAAACA , LRG_484:g.41424_41425insAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1113_*1114insAAACA	ENSP00000507095.1:n.*1113_*1114insAAACA
ENST00000683288.1:c.*2041_*2042insAAACA	ENSP00000507477.1:n.*2041_*2042insAAACA
ENST00000683748.1:c.2069_2070insAAACA	ENSP00000507377.1:p.His690GlnfsTer13
ENST00000683905.1:c.*718_*719insAAACA	ENSP00000506960.1:n.*718_*719insAAACA
ENST00000684139.1:c.1577_1578insAAACA	ENSP00000507295.1:p.His526GlnfsTer13
ENST00000684210.1:n.1755_1756insAAACA
ENST00000684314.1:c.1937_1938insAAACA	ENSP00000507700.1:p.His646GlnfsTer13
ENST00000684331.1:c.*762_*763insAAACA	ENSP00000507431.1:n.*762_*763insAAACA
ENST00000684463.1:n.680_681insAAACA
ENST00000684646.1:c.1829_1830insAAACA	ENSP00000507723.1:p.His610GlnfsTer13
ENST00000309971.9:c.2042_2043insAAACA MANE Select	ENSP00000308622.5:p.His681GlnfsTer13
ENST00000309971.8:c.2042_2043insAAACA	ENSP00000308622.4:p.His681GlnfsTer13
NM_001003722.1:c.2042_2043insAAACA , LRG_484t1:c.2042_2043insAAACA	NP_001003722.1:p.His681GlnfsTer13
XM_006717059.2:c.2078_2079insAAACA	XP_006717122.1:p.His693GlnfsTer13
XM_006717060.2:c.2051_2052insAAACA	XP_006717123.1:p.His684GlnfsTer13
XM_011518549.1:c.2078_2079insAAACA	XP_011516851.1:p.His693GlnfsTer13
XM_011518550.1:c.2078_2079insAAACA	XP_011516852.1:p.His693GlnfsTer13
XM_011518551.1:c.2069_2070insAAACA	XP_011516853.1:p.His690GlnfsTer13
XM_011518552.1:c.1319_1320insAAACA	XP_011516854.1:p.His440GlnfsTer13
XR_242681.3:n.100+2267_100+2268insTTGTT
XM_006717059.3:c.2078_2079insAAACA	XP_006717122.1:p.His693GlnfsTer13
XM_006717060.3:c.2051_2052insAAACA	XP_006717123.1:p.His684GlnfsTer13
XM_011518551.2:c.2069_2070insAAACA	XP_011516853.1:p.His690GlnfsTer13
XM_024447519.1:c.2051_2052insAAACA	XP_024303287.1:p.His684GlnfsTer13
NM_001003722.2:c.2042_2043insAAACA MANE Select	NP_001003722.1:p.His681GlnfsTer13