Canonical Allele Identifier: CA1165412742

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930652_42930657delinsTGCCCA , CM000663.2:g.42930652_42930657delinsTGCCCA	GRCh38
NC_000001.10:g.43396323_43396328delinsTGCCCA , CM000663.1:g.43396323_43396328delinsTGCCCA	GRCh37
NC_000001.9:g.43168910_43168915delinsTGCCCA	NCBI36
NG_008232.1:g.33520_33525delinsTGGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.485_490delinsTGGGCA MANE Select	ENSP00000416293.2:p.Leu162=
ENST00000674765.1:c.485_490delinsTGGGCA	ENSP00000501811.1:p.Leu162=
ENST00000675112.1:n.508_513delinsTGGGCA
ENST00000676254.1:n.934_939delinsTGGGCA
ENST00000426263.7:c.485_490delinsTGGGCA	ENSP00000416293.2:p.Leu162=
ENST00000439722.2:c.364_369delinsTGGGCA	ENSP00000395521.2:n.364_369delinsTGGGCA
ENST00000475162.3:c.384_389delinsTGGGCA
ENST00000625233.2:n.693_698delinsTGGGCA
ENST00000630287.2:c.485_490delinsTGGGCA	ENSP00000486694.1:p.Leu162=
NM_006516.2:c.485_490delinsTGGGCA	NP_006507.2:p.Leu162=
NM_006516.3:c.485_490delinsTGGGCA	NP_006507.2:p.Leu162=
NM_006516.4:c.485_490delinsTGGGCA MANE Select	NP_006507.2:p.Leu162=