Canonical Allele Identifier: CA2645199536

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930165-A-AGAGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930165_42930166insGAGCCT , CM000663.2:g.42930165_42930166insGAGCCT	GRCh38
NC_000001.10:g.43395836_43395837insGAGCCT , CM000663.1:g.43395836_43395837insGAGCCT	GRCh37
NC_000001.9:g.43168423_43168424insGAGCCT	NCBI36
NG_008232.1:g.34011_34012insAGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-131_517-130insAGGCTC MANE Select	ENSP00000416293.2:n.517-131_517-130insAGGCTC
ENST00000674765.1:c.517-131_517-130insAGGCTC	ENSP00000501811.1:n.517-131_517-130insAGGCTC
ENST00000675112.1:n.540-131_540-130insAGGCTC
ENST00000676254.1:n.966-131_966-130insAGGCTC
ENST00000426263.7:c.517-131_517-130insAGGCTC	ENSP00000416293.2:n.517-131_517-130insAGGCTC
ENST00000439722.2:c.396-131_396-130insAGGCTC	ENSP00000395521.2:n.396-131_396-130insAGGCTC
ENST00000475162.3:c.415+460_415+461insAGGCTC
ENST00000630287.2:c.517-386_517-385insAGGCTC	ENSP00000486694.1:n.517-386_517-385insAGGCTC
NM_006516.2:c.517-131_517-130insAGGCTC	NP_006507.2:n.517-131_517-130insAGGCTC
NM_006516.3:c.517-131_517-130insAGGCTC	NP_006507.2:n.517-131_517-130insAGGCTC
NM_006516.4:c.517-131_517-130insAGGCTC MANE Select	NP_006507.2:n.517-131_517-130insAGGCTC