Canonical Allele Identifier: CA590941468

Gene: GLE1

Linked Data

• dbSNP Id: rs1219953203
• gnomAD v2: 9-131303348-CTCAT-C
• gnomAD v4: 9-128541069-CTCAT-C
• MyVariant Identifiers: chr9:g.131303349_131303352del (hg19) ; chr9:g.128541070_128541073del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541072_128541075del , CM000671.2:g.128541072_128541075del	GRCh38
NC_000009.11:g.131303351_131303354del , CM000671.1:g.131303351_131303354del	GRCh37
NC_000009.10:g.130343172_130343175del	NCBI36
NG_012073.1:g.41381_41384del , LRG_484:g.41381_41384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100-30_*1100-27del	ENSP00000507095.1:n.*1100-30_*1100-27del
ENST00000683288.1:c.*2028-30_*2028-27del	ENSP00000507477.1:n.*2028-30_*2028-27del
ENST00000683748.1:c.2056-30_2056-27del	ENSP00000507377.1:n.2056-30_2056-27del
ENST00000683905.1:c.*705-30_*705-27del	ENSP00000506960.1:n.*705-30_*705-27del
ENST00000684139.1:c.1564-30_1564-27del	ENSP00000507295.1:n.1564-30_1564-27del
ENST00000684210.1:n.1742-30_1742-27del
ENST00000684314.1:c.1924-30_1924-27del	ENSP00000507700.1:n.1924-30_1924-27del
ENST00000684331.1:c.*719_*722del	ENSP00000507431.1:n.*719_*722del
ENST00000684463.1:n.667-30_667-27del
ENST00000684646.1:c.1816-30_1816-27del	ENSP00000507723.1:n.1816-30_1816-27del
ENST00000309971.9:c.2029-30_2029-27del MANE Select	ENSP00000308622.5:n.2029-30_2029-27del
ENST00000309971.8:c.2029-30_2029-27del	ENSP00000308622.4:n.2029-30_2029-27del
NM_001003722.1:c.2029-30_2029-27del , LRG_484t1:c.2029-30_2029-27del	NP_001003722.1:n.2029-30_2029-27del
XM_006717059.2:c.2065-30_2065-27del	XP_006717122.1:n.2065-30_2065-27del
XM_006717060.2:c.2038-30_2038-27del	XP_006717123.1:n.2038-30_2038-27del
XM_011518549.1:c.2065-30_2065-27del	XP_011516851.1:n.2065-30_2065-27del
XM_011518550.1:c.2065-30_2065-27del	XP_011516852.1:n.2065-30_2065-27del
XM_011518551.1:c.2056-30_2056-27del	XP_011516853.1:n.2056-30_2056-27del
XM_011518552.1:c.1306-30_1306-27del	XP_011516854.1:n.1306-30_1306-27del
XR_242681.3:n.100+2306_100+2309del
XR_428600.2:n.21_24del
XM_006717059.3:c.2065-30_2065-27del	XP_006717122.1:n.2065-30_2065-27del
XM_006717060.3:c.2038-30_2038-27del	XP_006717123.1:n.2038-30_2038-27del
XM_011518551.2:c.2056-30_2056-27del	XP_011516853.1:n.2056-30_2056-27del
XM_024447519.1:c.2038-30_2038-27del	XP_024303287.1:n.2038-30_2038-27del
XR_428600.3:n.23_26del
NM_001003722.2:c.2029-30_2029-27del MANE Select	NP_001003722.1:n.2029-30_2029-27del