Canonical Allele Identifier: CA2573132295

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1509125
• ClinVar RCV Id: RCV002017670
• dbSNP Id: rs2124447873

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928928_42928959dup , CM000663.2:g.42928928_42928959dup	GRCh38
NC_000001.10:g.43394599_43394630dup , CM000663.1:g.43394599_43394630dup	GRCh37
NC_000001.9:g.43167186_43167217dup	NCBI36
NG_008232.1:g.35218_35249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1047_1074+4dup
ENST00000674545.1:n.541_572dup
ENST00000674765.1:c.1029+18_1029+49dup	ENSP00000501811.1:n.1029+18_1029+49dup
ENST00000675112.1:n.1348_1375+4dup
ENST00000676254.1:n.1496_1523+4dup
ENST00000426263.7:c.1047_1074+4dup
ENST00000475162.3:c.415+1667_415+1698dup
ENST00000630287.2:c.*362_*389+4dup
NM_006516.2:c.1047_1074+4dup
NM_006516.3:c.1047_1074+4dup
NM_006516.4:c.1047_1074+4dup