Canonical Allele Identifier: CA2596813584

Gene: SLC2A1

Linked Data

• gnomAD v3: 1-42943555-ATCT-A
• gnomAD v4: 1-42943555-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943559_42943561del , CM000663.2:g.42943559_42943561del	GRCh38
NC_000001.10:g.43409230_43409232del , CM000663.1:g.43409230_43409232del	GRCh37
NC_000001.9:g.43181817_43181819del	NCBI36
NG_008232.1:g.20619_20621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.19-237_19-235del MANE Select	ENSP00000416293.2:n.19-237_19-235del
ENST00000674765.1:c.19-237_19-235del	ENSP00000501811.1:n.19-237_19-235del
ENST00000675112.1:n.42-237_42-235del
ENST00000372500.4:c.19-12352_19-12350del	ENSP00000361578.4:n.19-12352_19-12350del
ENST00000415851.6:n.236-237_236-235del
ENST00000426263.7:c.19-237_19-235del	ENSP00000416293.2:n.19-237_19-235del
ENST00000625233.2:n.227-237_227-235del
ENST00000628173.1:n.238-237_238-235del
ENST00000630287.2:c.19-237_19-235del	ENSP00000486694.1:n.19-237_19-235del
ENST00000630821.1:n.236-237_236-235del
NM_006516.2:c.19-237_19-235del	NP_006507.2:n.19-237_19-235del
NM_006516.3:c.19-237_19-235del	NP_006507.2:n.19-237_19-235del
NM_006516.4:c.19-237_19-235del MANE Select	NP_006507.2:n.19-237_19-235del