Canonical Allele Identifier: CA915941231

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 645950
• ClinVar RCV Id: RCV000800135
• dbSNP Id: rs1570593475

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930722del , CM000663.2:g.42930722del	GRCh38
NC_000001.10:g.43396393del , CM000663.1:g.43396393del	GRCh37
NC_000001.9:g.43168980del	NCBI36
NG_008232.1:g.33455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.420del MANE Select	ENSP00000416293.2:p.Met142CysfsTer?
ENST00000674765.1:c.420del	ENSP00000501811.1:p.Met142CysfsTer?
ENST00000675112.1:n.443del
ENST00000676254.1:n.869del
ENST00000372500.4:c.324del	ENSP00000361578.4:p.Met110CysfsTer?
ENST00000426263.7:c.420del	ENSP00000416293.2:p.Met142CysfsTer?
ENST00000439722.2:c.299del	ENSP00000395521.2:n.299del
ENST00000475162.3:c.319del
ENST00000625233.2:n.628del
ENST00000630287.2:c.420del	ENSP00000486694.1:p.Met142CysfsTer?
NM_006516.2:c.420del	NP_006507.2:p.Met142CysfsTer?
NM_006516.3:c.420del	NP_006507.2:p.Met142CysfsTer?
NM_006516.4:c.420del MANE Select	NP_006507.2:p.Met142CysfsTer?