Canonical Allele Identifier: CA1165412701

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930558_42930588delinsCAGATCCGAGAGCCACTGAAGCTGTGGGCAG , CM000663.2:g.42930558_42930588delinsCAGATCCGAGAGCCACTGAAGCTGTGGGCAG	GRCh38
NC_000001.10:g.43396229_43396259delinsCAGATCCGAGAGCCACTGAAGCTGTGGGCAG , CM000663.1:g.43396229_43396259delinsCAGATCCGAGAGCCACTGAAGCTGTGGGCAG	GRCh37
NC_000001.9:g.43168816_43168846delinsCAGATCCGAGAGCCACTGAAGCTGTGGGCAG	NCBI36
NG_008232.1:g.33589_33619delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG MANE Select	ENSP00000416293.2:n.516+38_516+68delinsCT...
ENST00000674765.1:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG	ENSP00000501811.1:n.516+38_516+68delinsCT...
ENST00000675112.1:n.539+38_539+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG
ENST00000676254.1:n.965+38_965+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG
ENST00000426263.7:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG	ENSP00000416293.2:n.516+38_516+68delinsCT...
ENST00000439722.2:c.395+38_395+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG	ENSP00000395521.2:n.395+38_395+68delinsCT...
ENST00000475162.3:c.415+38_415+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG
ENST00000625233.2:n.762_792delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG
ENST00000630287.2:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG	ENSP00000486694.1:n.516+38_516+68delinsCT...
NM_006516.2:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG	NP_006507.2:n.516+38_516+68delinsCTGCCCAC...
NM_006516.3:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG	NP_006507.2:n.516+38_516+68delinsCTGCCCAC...
NM_006516.4:c.516+38_516+68delinsCTGCCCACAGCTTCAGTGGCTCTCGGATCTG MANE Select	NP_006507.2:n.516+38_516+68delinsCTGCCCAC...