Canonical Allele Identifier: CA915941232

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 806117
• ClinVar RCV Id: RCV000993978
• dbSNP Id: rs1570593487

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930733_42930734del , CM000663.2:g.42930733_42930734del	GRCh38
NC_000001.10:g.43396404_43396405del , CM000663.1:g.43396404_43396405del	GRCh37
NC_000001.9:g.43168991_43168992del	NCBI36
NG_008232.1:g.33445_33446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.410_411del MANE Select	ENSP00000416293.2:p.Thr137ArgfsTer9
ENST00000674765.1:c.410_411del	ENSP00000501811.1:p.Thr137ArgfsTer9
ENST00000675112.1:n.433_434del
ENST00000676254.1:n.859_860del
ENST00000372500.4:c.314_315del	ENSP00000361578.4:p.Thr105ArgfsTer9
ENST00000426263.7:c.410_411del	ENSP00000416293.2:p.Thr137ArgfsTer9
ENST00000439722.2:c.289_290del	ENSP00000395521.2:n.289_290del
ENST00000475162.3:c.309_310del
ENST00000625233.2:n.618_619del
ENST00000630287.2:c.410_411del	ENSP00000486694.1:p.Thr137ArgfsTer9
NM_006516.2:c.410_411del	NP_006507.2:p.Thr137ArgfsTer9
NM_006516.3:c.410_411del	NP_006507.2:p.Thr137ArgfsTer9
NM_006516.4:c.410_411del MANE Select	NP_006507.2:p.Thr137ArgfsTer9