Canonical Allele Identifier: CA1165412159

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2165022
• ClinVar RCV Id: RCV003088331
• dbSNP Id: rs1643459646

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929189_42929194del , CM000663.2:g.42929189_42929194del	GRCh38
NC_000001.10:g.43394860_43394865del , CM000663.1:g.43394860_43394865del	GRCh37
NC_000001.9:g.43167447_43167452del	NCBI36
NG_008232.1:g.34984_34989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+17_972+22del MANE Select	ENSP00000416293.2:n.972+17_972+22del
ENST00000674545.1:n.307_312del
ENST00000674765.1:c.972+17_972+22del	ENSP00000501811.1:n.972+17_972+22del
ENST00000675112.1:n.1273+17_1273+22del
ENST00000676254.1:n.1421+17_1421+22del
ENST00000426263.7:c.972+17_972+22del	ENSP00000416293.2:n.972+17_972+22del
ENST00000439722.2:c.851+17_851+22del	ENSP00000395521.2:n.851+17_851+22del
ENST00000475162.3:c.415+1433_415+1438del
ENST00000630287.2:c.*287+17_*287+22del	ENSP00000486694.1:n.*287+17_*287+22del
NM_006516.2:c.972+17_972+22del	NP_006507.2:n.972+17_972+22del
NM_006516.3:c.972+17_972+22del	NP_006507.2:n.972+17_972+22del
NM_006516.4:c.972+17_972+22del MANE Select	NP_006507.2:n.972+17_972+22del