Canonical Allele Identifier: CA2691925814

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540980-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540985del , CM000671.2:g.128540985del	GRCh38
NC_000009.11:g.131303264del , CM000671.1:g.131303264del	GRCh37
NC_000009.10:g.130343085del	NCBI36
NG_012073.1:g.41294del , LRG_484:g.41294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100-117del	ENSP00000507095.1:n.*1100-117del
ENST00000683288.1:c.*2028-117del	ENSP00000507477.1:n.*2028-117del
ENST00000683748.1:c.2056-117del	ENSP00000507377.1:n.2056-117del
ENST00000683905.1:c.*705-117del	ENSP00000506960.1:n.*705-117del
ENST00000684139.1:c.1564-117del	ENSP00000507295.1:n.1564-117del
ENST00000684210.1:n.1742-117del
ENST00000684314.1:c.1924-117del	ENSP00000507700.1:n.1924-117del
ENST00000684331.1:c.*632del	ENSP00000507431.1:n.*632del
ENST00000684463.1:n.667-117del
ENST00000684646.1:c.1816-117del	ENSP00000507723.1:n.1816-117del
ENST00000309971.9:c.2029-117del MANE Select	ENSP00000308622.5:n.2029-117del
ENST00000309971.8:c.2029-117del	ENSP00000308622.4:n.2029-117del
NM_001003722.1:c.2029-117del , LRG_484t1:c.2029-117del	NP_001003722.1:n.2029-117del
XM_006717059.2:c.2065-117del	XP_006717122.1:n.2065-117del
XM_006717060.2:c.2038-117del	XP_006717123.1:n.2038-117del
XM_011518549.1:c.2065-117del	XP_011516851.1:n.2065-117del
XM_011518550.1:c.2065-117del	XP_011516852.1:n.2065-117del
XM_011518551.1:c.2056-117del	XP_011516853.1:n.2056-117del
XM_011518552.1:c.1306-117del	XP_011516854.1:n.1306-117del
XR_242681.3:n.100+2398del
XR_428600.2:n.113del
XM_006717059.3:c.2065-117del	XP_006717122.1:n.2065-117del
XM_006717060.3:c.2038-117del	XP_006717123.1:n.2038-117del
XM_011518551.2:c.2056-117del	XP_011516853.1:n.2056-117del
XM_024447519.1:c.2038-117del	XP_024303287.1:n.2038-117del
XR_428600.3:n.115del
NM_001003722.2:c.2029-117del MANE Select	NP_001003722.1:n.2029-117del