Canonical Allele Identifier: CA16617147

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 424135
• ClinVar RCV Id: RCV000485695
• dbSNP Id: rs1553156146
• MyVariant Identifiers: chr1:g.43396299dupG (hg19) ; chr1:g.43396298_43396299insG (hg19) ; chr1:g.42930628dupG (hg38) ; chr1:g.42930627_42930628insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930630dup , CM000663.2:g.42930630dup	GRCh38
NC_000001.10:g.43396301dup , CM000663.1:g.43396301dup	GRCh37
NC_000001.9:g.43168888dup	NCBI36
NG_008232.1:g.33549dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.514dup MANE Select	ENSP00000416293.2:p.Gln172ProfsTer?
ENST00000674765.1:c.514dup	ENSP00000501811.1:p.Gln172ProfsTer?
ENST00000675112.1:n.537dup
ENST00000676254.1:n.963dup
ENST00000426263.7:c.514dup	ENSP00000416293.2:p.Gln172ProfsTer?
ENST00000439722.2:c.393dup	ENSP00000395521.2:n.393dup
ENST00000475162.3:c.413dup
ENST00000625233.2:n.722dup
ENST00000630287.2:c.514dup	ENSP00000486694.1:p.Gln172ProfsTer?
NM_006516.2:c.514dup	NP_006507.2:p.Gln172ProfsTer?
NM_006516.3:c.514dup	NP_006507.2:p.Gln172ProfsTer?
NM_006516.4:c.514dup MANE Select	NP_006507.2:p.Gln172ProfsTer?