Canonical Allele Identifier: CA522496833

Gene: SLC2A1

Linked Data

• gnomAD v2: 1-43396348-G-GTC
• gnomAD v4: 1-42930677-G-GTC
• MyVariant Identifiers: chr1:g.43396348_43396349insTC (hg19) ; chr1:g.42930677_42930678insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930677_42930678insTC , CM000663.2:g.42930677_42930678insTC	GRCh38
NC_000001.10:g.43396348_43396349insTC , CM000663.1:g.43396348_43396349insTC	GRCh37
NC_000001.9:g.43168935_43168936insTC	NCBI36
NG_008232.1:g.33499_33500insGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.464_465insGA MANE Select	ENSP00000416293.2:p.Leu156ThrfsTer?
ENST00000674765.1:c.464_465insGA	ENSP00000501811.1:p.Leu156ThrfsTer?
ENST00000675112.1:n.487_488insGA
ENST00000676254.1:n.913_914insGA
ENST00000426263.7:c.464_465insGA	ENSP00000416293.2:p.Leu156ThrfsTer?
ENST00000439722.2:c.343_344insGA	ENSP00000395521.2:n.343_344insGA
ENST00000475162.3:c.363_364insGA
ENST00000625233.2:n.672_673insGA
ENST00000630287.2:c.464_465insGA	ENSP00000486694.1:p.Leu156ThrfsTer27
NM_006516.2:c.464_465insGA	NP_006507.2:p.Leu156ThrfsTer?
NM_006516.3:c.464_465insGA	NP_006507.2:p.Leu156ThrfsTer?
NM_006516.4:c.464_465insGA MANE Select	NP_006507.2:p.Leu156ThrfsTer?