Canonical Allele Identifier: CA2586966534

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929211_42929216delinsA , CM000663.2:g.42929211_42929216delinsA	GRCh38
NC_000001.10:g.43394882_43394887delinsA , CM000663.1:g.43394882_43394887delinsA	GRCh37
NC_000001.9:g.43167469_43167474delinsA	NCBI36
NG_008232.1:g.34961_34966delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.966_971delinsT MANE Select	ENSP00000416293.2:p.Val323AlafsTer?
ENST00000674545.1:n.284_289delinsT
ENST00000674765.1:c.966_971delinsT	ENSP00000501811.1:p.Val323AlafsTer?
ENST00000675112.1:n.1267_1272delinsT
ENST00000676254.1:n.1415_1420delinsT
ENST00000426263.7:c.966_971delinsT	ENSP00000416293.2:p.Val323AlafsTer?
ENST00000439722.2:c.845_850delinsT	ENSP00000395521.2:n.845_850delinsT
ENST00000475162.3:c.415+1410_415+1415delinsT
ENST00000630287.2:c.*281_*286delinsT	ENSP00000486694.1:n.*281_*286delinsT
NM_006516.2:c.966_971delinsT	NP_006507.2:p.Val323AlafsTer?
NM_006516.3:c.966_971delinsT	NP_006507.2:p.Val323AlafsTer?
NM_006516.4:c.966_971delinsT MANE Select	NP_006507.2:p.Val323AlafsTer?