Canonical Allele Identifier: CA1001056330

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1488136032
• gnomAD v3: 1-42943558-T-TTC
• gnomAD v4: 1-42943558-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943566_42943567dup , CM000663.2:g.42943566_42943567dup	GRCh38
NC_000001.10:g.43409237_43409238dup , CM000663.1:g.43409237_43409238dup	GRCh37
NC_000001.9:g.43181824_43181825dup	NCBI36
NG_008232.1:g.20617_20618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.19-239_19-238dup MANE Select	ENSP00000416293.2:n.19-239_19-238dup
ENST00000674765.1:c.19-239_19-238dup	ENSP00000501811.1:n.19-239_19-238dup
ENST00000675112.1:n.42-239_42-238dup
ENST00000372500.4:c.19-12354_19-12353dup	ENSP00000361578.4:n.19-12354_19-12353dup
ENST00000415851.6:n.236-239_236-238dup
ENST00000426263.7:c.19-239_19-238dup	ENSP00000416293.2:n.19-239_19-238dup
ENST00000625233.2:n.227-239_227-238dup
ENST00000628173.1:n.238-239_238-238dup
ENST00000630287.2:c.19-239_19-238dup	ENSP00000486694.1:n.19-239_19-238dup
ENST00000630821.1:n.236-239_236-238dup
NM_006516.2:c.19-239_19-238dup	NP_006507.2:n.19-239_19-238dup
NM_006516.3:c.19-239_19-238dup	NP_006507.2:n.19-239_19-238dup
NM_006516.4:c.19-239_19-238dup MANE Select	NP_006507.2:n.19-239_19-238dup