Canonical Allele Identifier: CA658683135

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 488600
• ClinVar RCV Id: RCV000578223
• dbSNP Id: rs1553156069
• MyVariant Identifiers: chr1:g.43395399del (hg19) ; chr1:g.42929728del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929728del , CM000663.2:g.42929728del	GRCh38
NC_000001.10:g.43395399del , CM000663.1:g.43395399del	GRCh37
NC_000001.9:g.43167986del	NCBI36
NG_008232.1:g.34449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.732del MANE Select	ENSP00000416293.2:p.Met244IlefsTer8
ENST00000669445.1:c.62del
ENST00000674765.1:c.732del	ENSP00000501811.1:p.Met244IlefsTer8
ENST00000675112.1:n.755del
ENST00000676254.1:n.1181del
ENST00000426263.7:c.732del	ENSP00000416293.2:p.Met244IlefsTer8
ENST00000439722.2:c.611del	ENSP00000395521.2:n.611del
ENST00000475162.3:c.415+898del
ENST00000630287.2:c.*47del	ENSP00000486694.1:n.*47del
NM_006516.2:c.732del	NP_006507.2:p.Met244IlefsTer8
NM_006516.3:c.732del	NP_006507.2:p.Met244IlefsTer8
NM_006516.4:c.732del MANE Select	NP_006507.2:p.Met244IlefsTer8