Canonical Allele Identifier: CA10606572

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 289839
• ClinVar RCV Id: RCV000341326
• dbSNP Id: rs886044287
• MyVariant Identifiers: chr1:g.43394886_43394887del (hg19) ; chr1:g.42929215_42929216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929215_42929216del , CM000663.2:g.42929215_42929216del	GRCh38
NC_000001.10:g.43394886_43394887del , CM000663.1:g.43394886_43394887del	GRCh37
NC_000001.9:g.43167473_43167474del	NCBI36
NG_008232.1:g.34961_34962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.966_967del MANE Select	ENSP00000416293.2:p.Ser324AlafsTer?
ENST00000674545.1:n.284_285del
ENST00000674765.1:c.966_967del	ENSP00000501811.1:p.Ser324AlafsTer?
ENST00000675112.1:n.1267_1268del
ENST00000676254.1:n.1415_1416del
ENST00000426263.7:c.966_967del	ENSP00000416293.2:p.Ser324AlafsTer?
ENST00000439722.2:c.845_846del	ENSP00000395521.2:n.845_846del
ENST00000475162.3:c.415+1410_415+1411del
ENST00000630287.2:c.*281_*282del	ENSP00000486694.1:n.*281_*282del
NM_006516.2:c.966_967del	NP_006507.2:p.Ser324AlafsTer?
NM_006516.3:c.966_967del	NP_006507.2:p.Ser324AlafsTer?
NM_006516.4:c.966_967del MANE Select	NP_006507.2:p.Ser324AlafsTer?