Canonical Allele Identifier: CA2691925849

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541217-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541218_128541221del , CM000671.2:g.128541218_128541221del	GRCh38
NC_000009.11:g.131303497_131303500del , CM000671.1:g.131303497_131303500del	GRCh37
NC_000009.10:g.130343318_130343321del	NCBI36
NG_012073.1:g.41527_41530del , LRG_484:g.41527_41530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1216_*1219del	ENSP00000507095.1:n.*1216_*1219del
ENST00000683288.1:c.*2144_*2147del	ENSP00000507477.1:n.*2144_*2147del
ENST00000683748.1:c.*48_*51del	ENSP00000507377.1:n.*48_*51del
ENST00000683905.1:c.*821_*824del	ENSP00000506960.1:n.*821_*824del
ENST00000684139.1:c.*48_*51del	ENSP00000507295.1:n.*48_*51del
ENST00000684210.1:n.1858_1861del
ENST00000684314.1:c.*48_*51del	ENSP00000507700.1:n.*48_*51del
ENST00000684331.1:c.*865_*868del	ENSP00000507431.1:n.*865_*868del
ENST00000684463.1:n.783_786del
ENST00000684646.1:c.*48_*51del	ENSP00000507723.1:n.*48_*51del
ENST00000309971.9:c.*48_*51del MANE Select	ENSP00000308622.5:n.*48_*51del
ENST00000309971.8:c.*48_*51del	ENSP00000308622.4:n.*48_*51del
NM_001003722.1:c.*48_*51del , LRG_484t1:c.*48_*51del	NP_001003722.1:n.*48_*51del
XM_006717059.2:c.*48_*51del	XP_006717122.1:n.*48_*51del
XM_006717060.2:c.*48_*51del	XP_006717123.1:n.*48_*51del
XM_011518549.1:c.*48_*51del	XP_011516851.1:n.*48_*51del
XM_011518550.1:c.*48_*51del	XP_011516852.1:n.*48_*51del
XM_011518551.1:c.*48_*51del	XP_011516853.1:n.*48_*51del
XM_011518552.1:c.*48_*51del	XP_011516854.1:n.*48_*51del
XR_242681.3:n.100+2158_100+2161del
XM_006717059.3:c.*48_*51del	XP_006717122.1:n.*48_*51del
XM_006717060.3:c.*48_*51del	XP_006717123.1:n.*48_*51del
XM_011518551.2:c.*48_*51del	XP_011516853.1:n.*48_*51del
XM_024447519.1:c.*48_*51del	XP_024303287.1:n.*48_*51del
NM_001003722.2:c.*48_*51del MANE Select	NP_001003722.1:n.*48_*51del