Canonical Allele Identifier: CA21251155

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2733883
• ClinVar RCV Id: RCV003518726
• dbSNP Id: rs80359835
• MyVariant Identifiers: chr1:g.43395406del (hg19) ; chr1:g.42929735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929735del , CM000663.2:g.42929735del	GRCh38
NC_000001.10:g.43395406del , CM000663.1:g.43395406del	GRCh37
NC_000001.9:g.43167993del	NCBI36
NG_008232.1:g.34442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.725del MANE Select	ENSP00000416293.2:p.Gln242ArgfsTer3
ENST00000669445.1:c.57-2del
ENST00000674765.1:c.725del	ENSP00000501811.1:p.Gln242ArgfsTer3
ENST00000675112.1:n.748del
ENST00000676254.1:n.1174del
ENST00000426263.7:c.725del	ENSP00000416293.2:p.Gln242ArgfsTer3
ENST00000439722.2:c.604del	ENSP00000395521.2:n.604del
ENST00000475162.3:c.415+891del
ENST00000630287.2:c.*40del	ENSP00000486694.1:n.*40del
NM_006516.2:c.725del	NP_006507.2:p.Gln242ArgfsTer3
NM_006516.3:c.725del	NP_006507.2:p.Gln242ArgfsTer3
NM_006516.4:c.725del MANE Select	NP_006507.2:p.Gln242ArgfsTer3