Canonical Allele Identifier: CA501192

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927773_42927780del , CM000663.2:g.42927773_42927780del	GRCh38
NC_000001.10:g.43393444_43393451del , CM000663.1:g.43393444_43393451del	GRCh37
NC_000001.9:g.43166031_43166038del	NCBI36
NG_008232.1:g.36399_36406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1105_1112del MANE Select	ENSP00000416293.2:p.Ile369HisfsTer9
ENST00000674545.1:n.1722_1729del
ENST00000674765.1:c.1030-921_1030-914del	ENSP00000501811.1:n.1030-921_1030-914del
ENST00000675112.1:n.1406_1413del
ENST00000676254.1:n.1554_1561del
ENST00000426263.7:c.1105_1112del	ENSP00000416293.2:p.Ile369HisfsTer9
ENST00000475162.3:c.416-800_416-793del
ENST00000630287.2:c.*420_*427del	ENSP00000486694.1:n.*420_*427del
NM_006516.2:c.1105_1112del	NP_006507.2:p.Ile369HisfsTer9
NM_006516.3:c.1105_1112del	NP_006507.2:p.Ile369HisfsTer9
NM_006516.4:c.1105_1112del MANE Select	NP_006507.2:p.Ile369HisfsTer9