Canonical Allele Identifier: CA2645199066

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929661-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929666del , CM000663.2:g.42929666del	GRCh38
NC_000001.10:g.43395337del , CM000663.1:g.43395337del	GRCh37
NC_000001.9:g.43167924del	NCBI36
NG_008232.1:g.34515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.798del MANE Select	ENSP00000416293.2:p.Ala267ProfsTer?
ENST00000669445.1:c.128del
ENST00000674765.1:c.798del	ENSP00000501811.1:p.Ala267ProfsTer?
ENST00000675112.1:n.821del
ENST00000676254.1:n.1247del
ENST00000426263.7:c.798del	ENSP00000416293.2:p.Ala267ProfsTer?
ENST00000439722.2:c.677del	ENSP00000395521.2:n.677del
ENST00000475162.3:c.415+964del
ENST00000630287.2:c.*113del	ENSP00000486694.1:n.*113del
NM_006516.2:c.798del	NP_006507.2:p.Ala267ProfsTer?
NM_006516.3:c.798del	NP_006507.2:p.Ala267ProfsTer?
NM_006516.4:c.798del MANE Select	NP_006507.2:p.Ala267ProfsTer?