Canonical Allele Identifier: CA658656901

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 449915
• ClinVar RCV Id: RCV000520991
• dbSNP Id: rs1553155885

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927695_42927697delinsTCA , CM000663.2:g.42927695_42927697delinsTCA	GRCh38
NC_000001.10:g.43393366_43393368delinsTCA , CM000663.1:g.43393366_43393368delinsTCA	GRCh37
NC_000001.9:g.43165953_43165955delinsTCA	NCBI36
NG_008232.1:g.36480_36482delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1186_1188delinsTGA MANE Select	ENSP00000416293.2:p.Ser396Ter
ENST00000674545.1:n.1803_1805delinsTGA
ENST00000674765.1:c.1030-840_1030-838delinsTGA	ENSP00000501811.1:n.1030-840_1030-838delinsTGA
ENST00000675112.1:n.1487_1489delinsTGA
ENST00000676254.1:n.1635_1637delinsTGA
ENST00000426263.7:c.1186_1188delinsTGA	ENSP00000416293.2:p.Ser396Ter
ENST00000475162.3:c.416-719_416-717delinsTGA
ENST00000630287.2:c.*501_*503delinsTGA	ENSP00000486694.1:n.*501_*503delinsTGA
NM_006516.2:c.1186_1188delinsTGA	NP_006507.2:p.Ser396Ter
NM_006516.3:c.1186_1188delinsTGA	NP_006507.2:p.Ser396Ter
NM_006516.4:c.1186_1188delinsTGA MANE Select	NP_006507.2:p.Ser396Ter