Canonical Allele Identifier: CA2580062841

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2106549
• ClinVar RCV Id: RCV003045403

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930760_42930765dup , CM000663.2:g.42930760_42930765dup	GRCh38
NC_000001.10:g.43396431_43396436dup , CM000663.1:g.43396431_43396436dup	GRCh37
NC_000001.9:g.43169018_43169023dup	NCBI36
NG_008232.1:g.33412_33417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.377_382dup MANE Select	ENSP00000416293.2:p.Phe127_Ile128insSerPhe
ENST00000674765.1:c.377_382dup	ENSP00000501811.1:p.Phe127_Ile128insSerPhe
ENST00000675112.1:n.400_405dup
ENST00000676254.1:n.826_831dup
ENST00000372500.4:c.281_286dup	ENSP00000361578.4:p.Phe95_Ile96insSerPhe
ENST00000426263.7:c.377_382dup	ENSP00000416293.2:p.Phe127_Ile128insSerPhe
ENST00000439722.2:c.256_261dup	ENSP00000395521.2:n.256_261dup
ENST00000475162.3:c.276_281dup
ENST00000625233.2:n.585_590dup
ENST00000630287.2:c.377_382dup	ENSP00000486694.1:p.Phe127_Ile128insSerPhe
NM_006516.2:c.377_382dup	NP_006507.2:p.Phe127_Ile128insSerPhe
NM_006516.3:c.377_382dup	NP_006507.2:p.Phe127_Ile128insSerPhe
NM_006516.4:c.377_382dup MANE Select	NP_006507.2:p.Phe127_Ile128insSerPhe