Canonical Allele Identifier: CA1139656058

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 971358
• ClinVar RCV Id: RCV001247122
• dbSNP Id: rs1643459989

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929210_42929215del , CM000663.2:g.42929210_42929215del	GRCh38
NC_000001.10:g.43394881_43394886del , CM000663.1:g.43394881_43394886del	GRCh37
NC_000001.9:g.43167468_43167473del	NCBI36
NG_008232.1:g.34965_34970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.970_972+3del
ENST00000674545.1:n.288_293del
ENST00000674765.1:c.970_972+3del
ENST00000675112.1:n.1271_1273+3del
ENST00000676254.1:n.1419_1421+3del
ENST00000426263.7:c.970_972+3del
ENST00000439722.2:c.849_851+3del
ENST00000475162.3:c.415+1414_415+1419del
ENST00000630287.2:c.*285_*287+3del
NM_006516.2:c.970_972+3del
NM_006516.3:c.970_972+3del
NM_006516.4:c.970_972+3del