Canonical Allele Identifier: CA1165412718

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643478054

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930590_42930591del , CM000663.2:g.42930590_42930591del	GRCh38
NC_000001.10:g.43396261_43396262del , CM000663.1:g.43396261_43396262del	GRCh37
NC_000001.9:g.43168848_43168849del	NCBI36
NG_008232.1:g.33588_33589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+37_516+38del MANE Select	ENSP00000416293.2:n.516+37_516+38del
ENST00000674765.1:c.516+37_516+38del	ENSP00000501811.1:n.516+37_516+38del
ENST00000675112.1:n.539+37_539+38del
ENST00000676254.1:n.965+37_965+38del
ENST00000426263.7:c.516+37_516+38del	ENSP00000416293.2:n.516+37_516+38del
ENST00000439722.2:c.395+37_395+38del	ENSP00000395521.2:n.395+37_395+38del
ENST00000475162.3:c.415+37_415+38del
ENST00000625233.2:n.761_762del
ENST00000630287.2:c.516+37_516+38del	ENSP00000486694.1:n.516+37_516+38del
NM_006516.2:c.516+37_516+38del	NP_006507.2:n.516+37_516+38del
NM_006516.3:c.516+37_516+38del	NP_006507.2:n.516+37_516+38del
NM_006516.4:c.516+37_516+38del MANE Select	NP_006507.2:n.516+37_516+38del