Canonical Allele Identifier: CA2645198449

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42927826-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927827del , CM000663.2:g.42927827del	GRCh38
NC_000001.10:g.43393498del , CM000663.1:g.43393498del	GRCh37
NC_000001.9:g.43166085del	NCBI36
NG_008232.1:g.36350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-19del MANE Select	ENSP00000416293.2:n.1075-19del
ENST00000674545.1:n.1673del
ENST00000674765.1:c.1030-970del	ENSP00000501811.1:n.1030-970del
ENST00000675112.1:n.1376-19del
ENST00000676254.1:n.1524-19del
ENST00000426263.7:c.1075-19del	ENSP00000416293.2:n.1075-19del
ENST00000475162.3:c.416-849del
ENST00000630287.2:c.*390-19del	ENSP00000486694.1:n.*390-19del
NM_006516.2:c.1075-19del	NP_006507.2:n.1075-19del
NM_006516.3:c.1075-19del	NP_006507.2:n.1075-19del
NM_006516.4:c.1075-19del MANE Select	NP_006507.2:n.1075-19del