Canonical Allele Identifier: CA803641

Gene: SLC2A1

Linked Data

• dbSNP Id: rs758539249
• ExAC: 1:43409000 GAAAC / G
• gnomAD v2: 1-43409000-GAAAC-G
• gnomAD v4: 1-42943329-GAAAC-G
• MyVariant Identifiers: chr1:g.43409001_43409004del (hg19) ; chr1:g.42943330_42943333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943334_42943337del , CM000663.2:g.42943334_42943337del	GRCh38
NC_000001.10:g.43409005_43409008del , CM000663.1:g.43409005_43409008del	GRCh37
NC_000001.9:g.43181592_43181595del	NCBI36
NG_008232.1:g.20844_20847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.19-12_19-9del MANE Select	ENSP00000416293.2:n.19-12_19-9del
ENST00000674765.1:c.19-12_19-9del	ENSP00000501811.1:n.19-12_19-9del
ENST00000675112.1:n.42-12_42-9del
ENST00000372500.4:c.19-12127_19-12124del	ENSP00000361578.4:n.19-12127_19-12124del
ENST00000415851.6:n.236-12_236-9del
ENST00000426263.7:c.19-12_19-9del	ENSP00000416293.2:n.19-12_19-9del
ENST00000625233.2:n.227-12_227-9del
ENST00000628173.1:n.238-12_238-9del
ENST00000630287.2:c.19-12_19-9del	ENSP00000486694.1:n.19-12_19-9del
ENST00000630821.1:n.236-12_236-9del
NM_006516.2:c.19-12_19-9del	NP_006507.2:n.19-12_19-9del
NM_006516.3:c.19-12_19-9del	NP_006507.2:n.19-12_19-9del
NM_006516.4:c.19-12_19-9del MANE Select	NP_006507.2:n.19-12_19-9del