Canonical Allele Identifier: CA2579487675

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541032-TTTAACCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541037_128541043del , CM000671.2:g.128541037_128541043del	GRCh38
NC_000009.11:g.131303316_131303322del , CM000671.1:g.131303316_131303322del	GRCh37
NC_000009.10:g.130343137_130343143del	NCBI36
NG_012073.1:g.41346_41352del , LRG_484:g.41346_41352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100-65_*1100-59del	ENSP00000507095.1:n.*1100-65_*1100-59del
ENST00000683288.1:c.*2028-65_*2028-59del	ENSP00000507477.1:n.*2028-65_*2028-59del
ENST00000683748.1:c.2056-65_2056-59del	ENSP00000507377.1:n.2056-65_2056-59del
ENST00000683905.1:c.*705-65_*705-59del	ENSP00000506960.1:n.*705-65_*705-59del
ENST00000684139.1:c.1564-65_1564-59del	ENSP00000507295.1:n.1564-65_1564-59del
ENST00000684210.1:n.1742-65_1742-59del
ENST00000684314.1:c.1924-65_1924-59del	ENSP00000507700.1:n.1924-65_1924-59del
ENST00000684331.1:c.*684_*690del	ENSP00000507431.1:n.*684_*690del
ENST00000684463.1:n.667-65_667-59del
ENST00000684646.1:c.1816-65_1816-59del	ENSP00000507723.1:n.1816-65_1816-59del
ENST00000309971.9:c.2029-65_2029-59del MANE Select	ENSP00000308622.5:n.2029-65_2029-59del
ENST00000309971.8:c.2029-65_2029-59del	ENSP00000308622.4:n.2029-65_2029-59del
NM_001003722.1:c.2029-65_2029-59del , LRG_484t1:c.2029-65_2029-59del	NP_001003722.1:n.2029-65_2029-59del
XM_006717059.2:c.2065-65_2065-59del	XP_006717122.1:n.2065-65_2065-59del
XM_006717060.2:c.2038-65_2038-59del	XP_006717123.1:n.2038-65_2038-59del
XM_011518549.1:c.2065-65_2065-59del	XP_011516851.1:n.2065-65_2065-59del
XM_011518550.1:c.2065-65_2065-59del	XP_011516852.1:n.2065-65_2065-59del
XM_011518551.1:c.2056-65_2056-59del	XP_011516853.1:n.2056-65_2056-59del
XM_011518552.1:c.1306-65_1306-59del	XP_011516854.1:n.1306-65_1306-59del
XR_242681.3:n.100+2340_100+2346del
XR_428600.2:n.55_61del
XM_006717059.3:c.2065-65_2065-59del	XP_006717122.1:n.2065-65_2065-59del
XM_006717060.3:c.2038-65_2038-59del	XP_006717123.1:n.2038-65_2038-59del
XM_011518551.2:c.2056-65_2056-59del	XP_011516853.1:n.2056-65_2056-59del
XM_024447519.1:c.2038-65_2038-59del	XP_024303287.1:n.2038-65_2038-59del
XR_428600.3:n.57_63del
NM_001003722.2:c.2029-65_2029-59del MANE Select	NP_001003722.1:n.2029-65_2029-59del