Canonical Allele Identifier: CA2580611158

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1810596
• ClinVar RCV Id: RCV002510083 ; RCV003445177

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929721_42929722del , CM000663.2:g.42929721_42929722del	GRCh38
NC_000001.10:g.43395392_43395393del , CM000663.1:g.43395392_43395393del	GRCh37
NC_000001.9:g.43167979_43167980del	NCBI36
NG_008232.1:g.34459_34460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.742_743del MANE Select	ENSP00000416293.2:p.Arg249AlafsTer?
ENST00000669445.1:c.72_73del
ENST00000674765.1:c.742_743del	ENSP00000501811.1:p.Arg249AlafsTer?
ENST00000675112.1:n.765_766del
ENST00000676254.1:n.1191_1192del
ENST00000426263.7:c.742_743del	ENSP00000416293.2:p.Arg249AlafsTer?
ENST00000439722.2:c.621_622del	ENSP00000395521.2:n.621_622del
ENST00000475162.3:c.415+908_415+909del
ENST00000630287.2:c.*57_*58del	ENSP00000486694.1:n.*57_*58del
NM_006516.2:c.742_743del	NP_006507.2:p.Arg249AlafsTer?
NM_006516.3:c.742_743del	NP_006507.2:p.Arg249AlafsTer?
NM_006516.4:c.742_743del MANE Select	NP_006507.2:p.Arg249AlafsTer?