Canonical Allele Identifier: CA16617144

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 420021
• ClinVar RCV Id: RCV000478834
• dbSNP Id: rs80359837
• MyVariant Identifiers: chr1:g.43394946del (hg19) ; chr1:g.42929275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929279del , CM000663.2:g.42929279del	GRCh38
NC_000001.10:g.43394950del , CM000663.1:g.43394950del	GRCh37
NC_000001.9:g.43167537del	NCBI36
NG_008232.1:g.34902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.907del MANE Select	ENSP00000416293.2:p.Val303CysfsTer?
ENST00000674545.1:n.225del
ENST00000674765.1:c.907del	ENSP00000501811.1:p.Val303CysfsTer?
ENST00000675112.1:n.1208del
ENST00000676254.1:n.1356del
ENST00000426263.7:c.907del	ENSP00000416293.2:p.Val303CysfsTer?
ENST00000439722.2:c.786del	ENSP00000395521.2:n.786del
ENST00000475162.3:c.415+1351del
ENST00000630287.2:c.*222del	ENSP00000486694.1:n.*222del
NM_006516.2:c.907del	NP_006507.2:p.Val303CysfsTer?
NM_006516.3:c.907del	NP_006507.2:p.Val303CysfsTer?
NM_006516.4:c.907del MANE Select	NP_006507.2:p.Val303CysfsTer?