Canonical Allele Identifier: CA2580611160

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2054084
• ClinVar RCV Id: RCV002927716 ; RCV003228107

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927750_42927752del , CM000663.2:g.42927750_42927752del	GRCh38
NC_000001.10:g.43393421_43393423del , CM000663.1:g.43393421_43393423del	GRCh37
NC_000001.9:g.43166008_43166010del	NCBI36
NG_008232.1:g.36428_36430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1134_1136del MANE Select	ENSP00000416293.2:p.Phe379del
ENST00000674545.1:n.1751_1753del
ENST00000674765.1:c.1030-892_1030-890del	ENSP00000501811.1:n.1030-892_1030-890del
ENST00000675112.1:n.1435_1437del
ENST00000676254.1:n.1583_1585del
ENST00000426263.7:c.1134_1136del	ENSP00000416293.2:p.Phe379del
ENST00000475162.3:c.416-771_416-769del
ENST00000630287.2:c.*449_*451del	ENSP00000486694.1:n.*449_*451del
NM_006516.2:c.1134_1136del	NP_006507.2:p.Phe379del
NM_006516.3:c.1134_1136del	NP_006507.2:p.Phe379del
NM_006516.4:c.1134_1136del MANE Select	NP_006507.2:p.Phe379del