Canonical Allele Identifier: CA2645200312

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930582-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930585del , CM000663.2:g.42930585del	GRCh38
NC_000001.10:g.43396256del , CM000663.1:g.43396256del	GRCh37
NC_000001.9:g.43168843del	NCBI36
NG_008232.1:g.33594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+43del MANE Select	ENSP00000416293.2:n.516+43del
ENST00000674765.1:c.516+43del	ENSP00000501811.1:n.516+43del
ENST00000675112.1:n.539+43del
ENST00000676254.1:n.965+43del
ENST00000426263.7:c.516+43del	ENSP00000416293.2:n.516+43del
ENST00000439722.2:c.395+43del	ENSP00000395521.2:n.395+43del
ENST00000475162.3:c.415+43del
ENST00000625233.2:n.767del
ENST00000630287.2:c.516+43del	ENSP00000486694.1:n.516+43del
NM_006516.2:c.516+43del	NP_006507.2:n.516+43del
NM_006516.3:c.516+43del	NP_006507.2:n.516+43del
NM_006516.4:c.516+43del MANE Select	NP_006507.2:n.516+43del