Canonical Allele Identifier: CA10581477

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 235888
• ClinVar RCV Id: RCV000224978
• dbSNP Id: rs878853161
• MyVariant Identifiers: chr1:g.43395648_43395649del (hg19) ; chr1:g.42929977_42929978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929977_42929978del , CM000663.2:g.42929977_42929978del	GRCh38
NC_000001.10:g.43395648_43395649del , CM000663.1:g.43395648_43395649del	GRCh37
NC_000001.9:g.43168235_43168236del	NCBI36
NG_008232.1:g.34199_34200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.574_575del MANE Select	ENSP00000416293.2:p.Ile192HisfsTer?
ENST00000674765.1:c.574_575del	ENSP00000501811.1:p.Ile192HisfsTer?
ENST00000675112.1:n.597_598del
ENST00000676254.1:n.1023_1024del
ENST00000426263.7:c.574_575del	ENSP00000416293.2:p.Ile192HisfsTer?
ENST00000439722.2:c.453_454del	ENSP00000395521.2:n.453_454del
ENST00000475162.3:c.415+648_415+649del
ENST00000630287.2:c.517-198_517-197del	ENSP00000486694.1:n.517-198_517-197del
NM_006516.2:c.574_575del	NP_006507.2:p.Ile192HisfsTer?
NM_006516.3:c.574_575del	NP_006507.2:p.Ile192HisfsTer?
NM_006516.4:c.574_575del MANE Select	NP_006507.2:p.Ile192HisfsTer?