Canonical Allele Identifier: CA1001076733

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1573613
• ClinVar RCV Id: RCV002217753
• dbSNP Id: rs1643459851
• gnomAD v3: 1-42929199-CAA-C
• gnomAD v4: 1-42929199-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929201_42929202del , CM000663.2:g.42929201_42929202del	GRCh38
NC_000001.10:g.43394872_43394873del , CM000663.1:g.43394872_43394873del	GRCh37
NC_000001.9:g.43167459_43167460del	NCBI36
NG_008232.1:g.34976_34977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+9_972+10del MANE Select	ENSP00000416293.2:n.972+9_972+10del
ENST00000674545.1:n.299_300del
ENST00000674765.1:c.972+9_972+10del	ENSP00000501811.1:n.972+9_972+10del
ENST00000675112.1:n.1273+9_1273+10del
ENST00000676254.1:n.1421+9_1421+10del
ENST00000426263.7:c.972+9_972+10del	ENSP00000416293.2:n.972+9_972+10del
ENST00000439722.2:c.851+9_851+10del	ENSP00000395521.2:n.851+9_851+10del
ENST00000475162.3:c.415+1425_415+1426del
ENST00000630287.2:c.*287+9_*287+10del	ENSP00000486694.1:n.*287+9_*287+10del
NM_006516.2:c.972+9_972+10del	NP_006507.2:n.972+9_972+10del
NM_006516.3:c.972+9_972+10del	NP_006507.2:n.972+9_972+10del
NM_006516.4:c.972+9_972+10del MANE Select	NP_006507.2:n.972+9_972+10del