Canonical Allele Identifier: CA658795435

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927114del , CM000663.2:g.42927114del	GRCh38
NC_000001.10:g.43392785del , CM000663.1:g.43392785del	GRCh37
NC_000001.9:g.43165372del	NCBI36
NG_008232.1:g.37063del

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1406del MANE Select	NP_006507.2:p.Gln469ArgfsTer?
ENST00000426263.10:c.1406del MANE Select	ENSP00000416293.2:p.Gln469ArgfsTer?
NM_006516.2:c.1406del	NP_006507.2:p.Gln469ArgfsTer?
NM_006516.3:c.1406del	NP_006507.2:p.Gln469ArgfsTer?
ENST00000426263.7:c.1406del	ENSP00000416293.2:p.Gln469ArgfsTer?
ENST00000475162.3:c.416-136del
ENST00000630287.2:c.*721del	ENSP00000486694.1:n.*721del
ENST00000674545.1:n.2023del
ENST00000674765.1:c.1030-257del	ENSP00000501811.1:n.1030-257del
ENST00000675112.1:n.1707del
ENST00000676254.1:n.1855del