Canonical Allele Identifier: CA1165412603

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930326_42930378delinsAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG , CM000663.2:g.42930326_42930378delinsAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG	GRCh38
NC_000001.10:g.43395997_43396049delinsAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG , CM000663.1:g.43395997_43396049delinsAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG	GRCh37
NC_000001.9:g.43168584_43168636delinsAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG	NCBI36
NG_008232.1:g.33799_33851delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT MANE Select	ENSP00000416293.2:n.516+248_517-291delinsCAACATGCCGCAGGCTGTTA...
ENST00000674765.1:c.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT	ENSP00000501811.1:n.516+248_517-291delinsCAACATGCCGCAGGCTGTTA...
ENST00000675112.1:n.539+248_540-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT
ENST00000676254.1:n.965+248_966-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT
ENST00000426263.7:c.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT	ENSP00000416293.2:n.516+248_517-291delinsCAACATGCCGCAGGCTGTTA...
ENST00000439722.2:c.395+248_396-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT	ENSP00000395521.2:n.395+248_396-291delinsCAACATGCCGCAGGCTGTTA...
ENST00000475162.3:c.415+248_415+300delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT
ENST00000625233.2:n.972_1024delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT
ENST00000630287.2:c.516+248_516+300delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT	ENSP00000486694.1:n.516+248_516+300delinsCAACATGCCGCAGGCTGTTA...
NM_006516.2:c.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT	NP_006507.2:n.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACA...
NM_006516.3:c.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT	NP_006507.2:n.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACA...
NM_006516.4:c.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACAGTACCCTCTCTCCAGGAGGCTTCCCCT MANE Select	NP_006507.2:n.516+248_517-291delinsCAACATGCCGCAGGCTGTTATGCACA...