Canonical Allele Identifier: CA2691925709

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540400-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540401del , CM000671.2:g.128540401del	GRCh38
NC_000009.11:g.131302680del , CM000671.1:g.131302680del	GRCh37
NC_000009.10:g.130342501del	NCBI36
NG_012073.1:g.40710del , LRG_484:g.40710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1099+63del	ENSP00000507095.1:n.*1099+63del
ENST00000683288.1:c.*2027+63del	ENSP00000507477.1:n.*2027+63del
ENST00000683748.1:c.2055+63del	ENSP00000507377.1:n.2055+63del
ENST00000683905.1:c.*704+63del	ENSP00000506960.1:n.*704+63del
ENST00000684139.1:c.1563+63del	ENSP00000507295.1:n.1563+63del
ENST00000684210.1:n.1741+63del
ENST00000684314.1:c.1923+63del	ENSP00000507700.1:n.1923+63del
ENST00000684331.1:c.*48del	ENSP00000507431.1:n.*48del
ENST00000684463.1:n.666+63del
ENST00000684646.1:c.1815+63del	ENSP00000507723.1:n.1815+63del
ENST00000309971.9:c.2028+63del MANE Select	ENSP00000308622.5:n.2028+63del
ENST00000309971.8:c.2028+63del	ENSP00000308622.4:n.2028+63del
NM_001003722.1:c.2028+63del , LRG_484t1:c.2028+63del	NP_001003722.1:n.2028+63del
XM_006717059.2:c.2064+63del	XP_006717122.1:n.2064+63del
XM_006717060.2:c.2037+63del	XP_006717123.1:n.2037+63del
XM_011518549.1:c.2064+63del	XP_011516851.1:n.2064+63del
XM_011518550.1:c.2064+63del	XP_011516852.1:n.2064+63del
XM_011518551.1:c.2055+63del	XP_011516853.1:n.2055+63del
XM_011518552.1:c.1305+63del	XP_011516854.1:n.1305+63del
XR_242681.3:n.100+2978del
XR_428600.2:n.124+569del
XM_006717059.3:c.2064+63del	XP_006717122.1:n.2064+63del
XM_006717060.3:c.2037+63del	XP_006717123.1:n.2037+63del
XM_011518551.2:c.2055+63del	XP_011516853.1:n.2055+63del
XM_024447519.1:c.2037+63del	XP_024303287.1:n.2037+63del
XR_428600.3:n.126+569del
NM_001003722.2:c.2028+63del MANE Select	NP_001003722.1:n.2028+63del