Canonical Allele Identifier: CA318484

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207221
• ClinVar RCV Id: RCV000189387
• dbSNP Id: rs796053268
• MyVariant Identifiers: chr1:g.43395290_43395303del (hg19) ; chr1:g.42929619_42929632del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929624_42929637del , CM000663.2:g.42929624_42929637del	GRCh38
NC_000001.10:g.43395295_43395308del , CM000663.1:g.43395295_43395308del	GRCh37
NC_000001.9:g.43167882_43167895del	NCBI36
NG_008232.1:g.34545_34558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.828_841del MANE Select	ENSP00000416293.2:p.Val277ProfsTer?
ENST00000674765.1:c.828_841del	ENSP00000501811.1:p.Val277ProfsTer?
ENST00000675112.1:n.851_864del
ENST00000676254.1:n.1277_1290del
ENST00000426263.7:c.828_841del	ENSP00000416293.2:p.Val277ProfsTer?
ENST00000439722.2:c.707_720del	ENSP00000395521.2:n.707_720del
ENST00000475162.3:c.415+994_415+1007del
ENST00000630287.2:c.*143_*156del	ENSP00000486694.1:n.*143_*156del
NM_006516.2:c.828_841del	NP_006507.2:p.Val277ProfsTer?
NM_006516.3:c.828_841del	NP_006507.2:p.Val277ProfsTer?
NM_006516.4:c.828_841del MANE Select	NP_006507.2:p.Val277ProfsTer?