Canonical Allele Identifier: CA2499214724

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1072451
• ClinVar RCV Id: RCV001385177
• dbSNP Id: rs2124450273

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930757dup , CM000663.2:g.42930757dup	GRCh38
NC_000001.10:g.43396428dup , CM000663.1:g.43396428dup	GRCh37
NC_000001.9:g.43169015dup	NCBI36
NG_008232.1:g.33420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.385dup MANE Select	ENSP00000416293.2:p.Ile129AsnfsTer18
ENST00000674765.1:c.385dup	ENSP00000501811.1:p.Ile129AsnfsTer18
ENST00000675112.1:n.408dup
ENST00000676254.1:n.834dup
ENST00000372500.4:c.289dup	ENSP00000361578.4:p.Ile97AsnfsTer18
ENST00000426263.7:c.385dup	ENSP00000416293.2:p.Ile129AsnfsTer18
ENST00000439722.2:c.264dup	ENSP00000395521.2:n.264dup
ENST00000475162.3:c.284dup
ENST00000625233.2:n.593dup
ENST00000630287.2:c.385dup	ENSP00000486694.1:p.Ile129AsnfsTer18
NM_006516.2:c.385dup	NP_006507.2:p.Ile129AsnfsTer18
NM_006516.3:c.385dup	NP_006507.2:p.Ile129AsnfsTer18
NM_006516.4:c.385dup MANE Select	NP_006507.2:p.Ile129AsnfsTer18