Canonical Allele Identifier: CA1139656060

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 960252
• ClinVar RCV Id: RCV001233741
• dbSNP Id: rs1643480570

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930770del , CM000663.2:g.42930770del	GRCh38
NC_000001.10:g.43396441del , CM000663.1:g.43396441del	GRCh37
NC_000001.9:g.43169028del	NCBI36
NG_008232.1:g.33409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.374del MANE Select	ENSP00000416293.2:p.Gly125AlafsTer11
ENST00000674765.1:c.374del	ENSP00000501811.1:p.Gly125AlafsTer11
ENST00000675112.1:n.397del
ENST00000676254.1:n.823del
ENST00000372500.4:c.278del	ENSP00000361578.4:p.Gly93AlafsTer11
ENST00000426263.7:c.374del	ENSP00000416293.2:p.Gly125AlafsTer11
ENST00000439722.2:c.253del	ENSP00000395521.2:n.253del
ENST00000475162.3:c.273del
ENST00000625233.2:n.582del
ENST00000630287.2:c.374del	ENSP00000486694.1:p.Gly125AlafsTer11
NM_006516.2:c.374del	NP_006507.2:p.Gly125AlafsTer11
NM_006516.3:c.374del	NP_006507.2:p.Gly125AlafsTer11
NM_006516.4:c.374del MANE Select	NP_006507.2:p.Gly125AlafsTer11