Canonical Allele Identifier: CA2645199449

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943430-GCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943434_42943436del , CM000663.2:g.42943434_42943436del	GRCh38
NC_000001.10:g.43409105_43409107del , CM000663.1:g.43409105_43409107del	GRCh37
NC_000001.9:g.43181692_43181694del	NCBI36
NG_008232.1:g.20744_20746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.19-112_19-110del MANE Select	ENSP00000416293.2:n.19-112_19-110del
ENST00000674765.1:c.19-112_19-110del	ENSP00000501811.1:n.19-112_19-110del
ENST00000675112.1:n.42-112_42-110del
ENST00000372500.4:c.19-12227_19-12225del	ENSP00000361578.4:n.19-12227_19-12225del
ENST00000415851.6:n.236-112_236-110del
ENST00000426263.7:c.19-112_19-110del	ENSP00000416293.2:n.19-112_19-110del
ENST00000625233.2:n.227-112_227-110del
ENST00000628173.1:n.238-112_238-110del
ENST00000630287.2:c.19-112_19-110del	ENSP00000486694.1:n.19-112_19-110del
ENST00000630821.1:n.236-112_236-110del
NM_006516.2:c.19-112_19-110del	NP_006507.2:n.19-112_19-110del
NM_006516.3:c.19-112_19-110del	NP_006507.2:n.19-112_19-110del
NM_006516.4:c.19-112_19-110del MANE Select	NP_006507.2:n.19-112_19-110del