Canonical Allele Identifier: CA1165412069

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928996_42928999delinsTGCA , CM000663.2:g.42928996_42928999delinsTGCA	GRCh38
NC_000001.10:g.43394667_43394670delinsTGCA , CM000663.1:g.43394667_43394670delinsTGCA	GRCh37
NC_000001.9:g.43167254_43167257delinsTGCA	NCBI36
NG_008232.1:g.35178_35181delinsTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1007_1010delinsTGCA MANE Select	ENSP00000416293.2:p.Leu336=
ENST00000674545.1:n.501_504delinsTGCA
ENST00000674765.1:c.1007_1010delinsTGCA	ENSP00000501811.1:p.Leu336=
ENST00000675112.1:n.1308_1311delinsTGCA
ENST00000676254.1:n.1456_1459delinsTGCA
ENST00000426263.7:c.1007_1010delinsTGCA	ENSP00000416293.2:p.Leu336=
ENST00000475162.3:c.415+1627_415+1630delinsTGCA
ENST00000630287.2:c.*322_*325delinsTGCA	ENSP00000486694.1:n.*322_*325delinsTGCA
NM_006516.2:c.1007_1010delinsTGCA	NP_006507.2:p.Leu336=
NM_006516.3:c.1007_1010delinsTGCA	NP_006507.2:p.Leu336=
NM_006516.4:c.1007_1010delinsTGCA MANE Select	NP_006507.2:p.Leu336=