Canonical Allele Identifier: CA2573132288

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1450700
• ClinVar RCV Id: RCV002014835
• dbSNP Id: rs2124446431

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927720del , CM000663.2:g.42927720del	GRCh38
NC_000001.10:g.43393391del , CM000663.1:g.43393391del	GRCh37
NC_000001.9:g.43165978del	NCBI36
NG_008232.1:g.36458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1164del MANE Select	ENSP00000416293.2:p.Trp388CysfsTer?
ENST00000674545.1:n.1781del
ENST00000674765.1:c.1030-862del	ENSP00000501811.1:n.1030-862del
ENST00000675112.1:n.1465del
ENST00000676254.1:n.1613del
ENST00000426263.7:c.1164del	ENSP00000416293.2:p.Trp388CysfsTer?
ENST00000475162.3:c.416-741del
ENST00000630287.2:c.*479del	ENSP00000486694.1:n.*479del
NM_006516.2:c.1164del	NP_006507.2:p.Trp388CysfsTer?
NM_006516.3:c.1164del	NP_006507.2:p.Trp388CysfsTer?
NM_006516.4:c.1164del MANE Select	NP_006507.2:p.Trp388CysfsTer?