Canonical Allele Identifier: CA2645199277

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42943097-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42943101_42943102del , CM000663.2:g.42943101_42943102del	GRCh38
NC_000001.10:g.43408772_43408773del , CM000663.1:g.43408772_43408773del	GRCh37
NC_000001.9:g.43181359_43181360del	NCBI36
NG_008232.1:g.21078_21079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.114+127_114+128del MANE Select	ENSP00000416293.2:n.114+127_114+128del
ENST00000674765.1:c.114+127_114+128del	ENSP00000501811.1:n.114+127_114+128del
ENST00000675112.1:n.137+127_137+128del
ENST00000372500.4:c.19-11893_19-11892del	ENSP00000361578.4:n.19-11893_19-11892del
ENST00000415851.6:n.331+127_331+128del
ENST00000426263.7:c.114+127_114+128del	ENSP00000416293.2:n.114+127_114+128del
ENST00000475162.3:c.13+127_13+128del
ENST00000625233.2:n.322+127_322+128del
ENST00000628173.1:n.333+127_333+128del
ENST00000630287.2:c.114+127_114+128del	ENSP00000486694.1:n.114+127_114+128del
ENST00000630821.1:n.458_459del
NM_006516.2:c.114+127_114+128del	NP_006507.2:n.114+127_114+128del
NM_006516.3:c.114+127_114+128del	NP_006507.2:n.114+127_114+128del
NM_006516.4:c.114+127_114+128del MANE Select	NP_006507.2:n.114+127_114+128del