Canonical Allele Identifier: CA2573132282

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1454405
• ClinVar RCV Id: RCV001941855
• dbSNP Id: rs2124445408

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927113dup , CM000663.2:g.42927113dup	GRCh38
NC_000001.10:g.43392784dup , CM000663.1:g.43392784dup	GRCh37
NC_000001.9:g.43165371dup	NCBI36
NG_008232.1:g.37069dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1412dup MANE Select	ENSP00000416293.2:p.Ala472SerfsTer5
ENST00000674545.1:n.2029dup
ENST00000674765.1:c.1030-251dup	ENSP00000501811.1:n.1030-251dup
ENST00000675112.1:n.1713dup
ENST00000676254.1:n.1861dup
ENST00000426263.7:c.1412dup	ENSP00000416293.2:p.Ala472SerfsTer5
ENST00000475162.3:c.416-130dup
ENST00000630287.2:c.*727dup	ENSP00000486694.1:n.*727dup
NM_006516.2:c.1412dup	NP_006507.2:p.Ala472SerfsTer5
NM_006516.3:c.1412dup	NP_006507.2:p.Ala472SerfsTer5
NM_006516.4:c.1412dup MANE Select	NP_006507.2:p.Ala472SerfsTer5