Canonical Allele Identifier: CA2645199253

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943061-AGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943065_42943156del , CM000663.2:g.42943065_42943156del	GRCh38
NC_000001.10:g.43408736_43408827del , CM000663.1:g.43408736_43408827del	GRCh37
NC_000001.9:g.43181323_43181414del	NCBI36
NG_008232.1:g.21024_21115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+73_114+164del MANE Select	ENSP00000416293.2:n.114+73_114+164del
ENST00000674765.1:c.114+73_114+164del	ENSP00000501811.1:n.114+73_114+164del
ENST00000675112.1:n.137+73_137+164del
ENST00000372500.4:c.19-11947_19-11856del	ENSP00000361578.4:n.19-11947_19-11856del
ENST00000415851.6:n.331+73_331+164del
ENST00000426263.7:c.114+73_114+164del	ENSP00000416293.2:n.114+73_114+164del
ENST00000475162.3:c.13+73_13+164del
ENST00000625233.2:n.322+73_322+164del
ENST00000628173.1:n.333+73_333+164del
ENST00000630287.2:c.114+73_114+164del	ENSP00000486694.1:n.114+73_114+164del
ENST00000630821.1:n.404_495del
NM_006516.2:c.114+73_114+164del	NP_006507.2:n.114+73_114+164del
NM_006516.3:c.114+73_114+164del	NP_006507.2:n.114+73_114+164del
NM_006516.4:c.114+73_114+164del MANE Select	NP_006507.2:n.114+73_114+164del