Canonical Allele Identifier: CA1139656063

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 978896
• ClinVar RCV Id: RCV001257676
• dbSNP Id: rs1643481930

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930857del , CM000663.2:g.42930857del	GRCh38
NC_000001.10:g.43396528del , CM000663.1:g.43396528del	GRCh37
NC_000001.9:g.43169115del	NCBI36
NG_008232.1:g.33321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.286del MANE Select	ENSP00000416293.2:p.Met96CysfsTer2
ENST00000674765.1:c.286del	ENSP00000501811.1:p.Met96CysfsTer2
ENST00000675112.1:n.309del
ENST00000676254.1:n.735del
ENST00000372500.4:c.190del	ENSP00000361578.4:p.Met64CysfsTer2
ENST00000426263.7:c.286del	ENSP00000416293.2:p.Met96CysfsTer2
ENST00000439722.2:c.165del	ENSP00000395521.2:n.165del
ENST00000475162.3:c.185del
ENST00000625233.2:n.494del
ENST00000630287.2:c.286del	ENSP00000486694.1:p.Met96CysfsTer2
NM_006516.2:c.286del	NP_006507.2:p.Met96CysfsTer2
NM_006516.3:c.286del	NP_006507.2:p.Met96CysfsTer2
NM_006516.4:c.286del MANE Select	NP_006507.2:p.Met96CysfsTer2