Canonical Allele Identifier: CA1165412158

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929187_42929193delinsGGGGCCA , CM000663.2:g.42929187_42929193delinsGGGGCCA	GRCh38
NC_000001.10:g.43394858_43394864delinsGGGGCCA , CM000663.1:g.43394858_43394864delinsGGGGCCA	GRCh37
NC_000001.9:g.43167445_43167451delinsGGGGCCA	NCBI36
NG_008232.1:g.34984_34990delinsTGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+17_972+23delinsTGGCCCC MANE Select	ENSP00000416293.2:n.972+17_972+23delinsTGGCCCC
ENST00000674545.1:n.307_313delinsTGGCCCC
ENST00000674765.1:c.972+17_972+23delinsTGGCCCC	ENSP00000501811.1:n.972+17_972+23delinsTGGCCCC
ENST00000675112.1:n.1273+17_1273+23delinsTGGCCCC
ENST00000676254.1:n.1421+17_1421+23delinsTGGCCCC
ENST00000426263.7:c.972+17_972+23delinsTGGCCCC	ENSP00000416293.2:n.972+17_972+23delinsTGGCCCC
ENST00000439722.2:c.851+17_851+23delinsTGGCCCC	ENSP00000395521.2:n.851+17_851+23delinsTGGCCCC
ENST00000475162.3:c.415+1433_415+1439delinsTGGCCCC
ENST00000630287.2:c.*287+17_*287+23delinsTGGCCCC	ENSP00000486694.1:n.*287+17_*287+23delinsTGGCCCC
NM_006516.2:c.972+17_972+23delinsTGGCCCC	NP_006507.2:n.972+17_972+23delinsTGGCCCC
NM_006516.3:c.972+17_972+23delinsTGGCCCC	NP_006507.2:n.972+17_972+23delinsTGGCCCC
NM_006516.4:c.972+17_972+23delinsTGGCCCC MANE Select	NP_006507.2:n.972+17_972+23delinsTGGCCCC