Canonical Allele Identifier: CA2573132305

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1455446
• ClinVar RCV Id: RCV001946595
• dbSNP Id: rs2124450471

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930848dup , CM000663.2:g.42930848dup	GRCh38
NC_000001.10:g.43396519dup , CM000663.1:g.43396519dup	GRCh37
NC_000001.9:g.43169106dup	NCBI36
NG_008232.1:g.33329dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.294dup MANE Select	ENSP00000416293.2:p.Met99AspfsTer22
ENST00000674765.1:c.294dup	ENSP00000501811.1:p.Met99AspfsTer22
ENST00000675112.1:n.317dup
ENST00000676254.1:n.743dup
ENST00000372500.4:c.198dup	ENSP00000361578.4:p.Met67AspfsTer22
ENST00000426263.7:c.294dup	ENSP00000416293.2:p.Met99AspfsTer22
ENST00000439722.2:c.173dup	ENSP00000395521.2:n.173dup
ENST00000475162.3:c.193dup
ENST00000625233.2:n.502dup
ENST00000630287.2:c.294dup	ENSP00000486694.1:p.Met99AspfsTer22
NM_006516.2:c.294dup	NP_006507.2:p.Met99AspfsTer22
NM_006516.3:c.294dup	NP_006507.2:p.Met99AspfsTer22
NM_006516.4:c.294dup MANE Select	NP_006507.2:p.Met99AspfsTer22