Canonical Allele Identifier: CA658795441

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 538672
• ClinVar RCV Id: RCV000648078
• dbSNP Id: rs1553155999
• MyVariant Identifiers: chr1:g.43394876_43394877del (hg19) ; chr1:g.42929205_42929206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929206_42929207del , CM000663.2:g.42929206_42929207del	GRCh38
NC_000001.10:g.43394877_43394878del , CM000663.1:g.43394877_43394878del	GRCh37
NC_000001.9:g.43167464_43167465del	NCBI36
NG_008232.1:g.34971_34972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+4_972+5del MANE Select	ENSP00000416293.2:n.972+4_972+5del
ENST00000674545.1:n.294_295del
ENST00000674765.1:c.972+4_972+5del	ENSP00000501811.1:n.972+4_972+5del
ENST00000675112.1:n.1273+4_1273+5del
ENST00000676254.1:n.1421+4_1421+5del
ENST00000426263.7:c.972+4_972+5del	ENSP00000416293.2:n.972+4_972+5del
ENST00000439722.2:c.851+4_851+5del	ENSP00000395521.2:n.851+4_851+5del
ENST00000475162.3:c.415+1420_415+1421del
ENST00000630287.2:c.*287+4_*287+5del	ENSP00000486694.1:n.*287+4_*287+5del
NM_006516.2:c.972+4_972+5del	NP_006507.2:n.972+4_972+5del
NM_006516.3:c.972+4_972+5del	NP_006507.2:n.972+4_972+5del
NM_006516.4:c.972+4_972+5del MANE Select	NP_006507.2:n.972+4_972+5del