Canonical Allele Identifier: CA658795437

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 538682
• ClinVar RCV Id: RCV000648091
• dbSNP Id: rs1553155887
• MyVariant Identifiers: chr1:g.43393375del (hg19) ; chr1:g.42927704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927705del , CM000663.2:g.42927705del	GRCh38
NC_000001.10:g.43393376del , CM000663.1:g.43393376del	GRCh37
NC_000001.9:g.43165963del	NCBI36
NG_008232.1:g.36473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1179del MANE Select	ENSP00000416293.2:p.Glu393AspfsTer?
ENST00000674545.1:n.1796del
ENST00000674765.1:c.1030-847del	ENSP00000501811.1:n.1030-847del
ENST00000675112.1:n.1480del
ENST00000676254.1:n.1628del
ENST00000426263.7:c.1179del	ENSP00000416293.2:p.Glu393AspfsTer?
ENST00000475162.3:c.416-726del
ENST00000630287.2:c.*494del	ENSP00000486694.1:n.*494del
NM_006516.2:c.1179del	NP_006507.2:p.Glu393AspfsTer?
NM_006516.3:c.1179del	NP_006507.2:p.Glu393AspfsTer?
NM_006516.4:c.1179del MANE Select	NP_006507.2:p.Glu393AspfsTer?