Canonical Allele Identifier: CA1001056226

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643613858
• gnomAD v3: 1-42943053-GCAAGAGAAGAGTCTCTGA-G
• gnomAD v4: 1-42943053-GCAAGAGAAGAGTCTCTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943056_42943073del , CM000663.2:g.42943056_42943073del	GRCh38
NC_000001.10:g.43408727_43408744del , CM000663.1:g.43408727_43408744del	GRCh37
NC_000001.9:g.43181314_43181331del	NCBI36
NG_008232.1:g.21106_21123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+155_114+172del MANE Select	ENSP00000416293.2:n.114+155_114+172del
ENST00000674765.1:c.114+155_114+172del	ENSP00000501811.1:n.114+155_114+172del
ENST00000675112.1:n.137+155_137+172del
ENST00000372500.4:c.19-11865_19-11848del	ENSP00000361578.4:n.19-11865_19-11848del
ENST00000415851.6:n.331+155_331+172del
ENST00000426263.7:c.114+155_114+172del	ENSP00000416293.2:n.114+155_114+172del
ENST00000475162.3:c.13+155_13+172del
ENST00000625233.2:n.322+155_322+172del
ENST00000628173.1:n.333+155_333+172del
ENST00000630287.2:c.114+155_114+172del	ENSP00000486694.1:n.114+155_114+172del
ENST00000630821.1:n.486_503del
NM_006516.2:c.114+155_114+172del	NP_006507.2:n.114+155_114+172del
NM_006516.3:c.114+155_114+172del	NP_006507.2:n.114+155_114+172del
NM_006516.4:c.114+155_114+172del MANE Select	NP_006507.2:n.114+155_114+172del