Canonical Allele Identifier: CA2739272507

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2841897
• ClinVar RCV Id: RCV003631993

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929868del , CM000663.2:g.42929868del	GRCh38
NC_000001.10:g.43395539del , CM000663.1:g.43395539del	GRCh37
NC_000001.9:g.43168126del	NCBI36
NG_008232.1:g.34311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.679+7del MANE Select	ENSP00000416293.2:n.679+7del
ENST00000669445.1:c.56+7del
ENST00000674765.1:c.679+7del	ENSP00000501811.1:n.679+7del
ENST00000675112.1:n.702+7del
ENST00000676254.1:n.1128+7del
ENST00000426263.7:c.679+7del	ENSP00000416293.2:n.679+7del
ENST00000439722.2:c.558+7del	ENSP00000395521.2:n.558+7del
ENST00000475162.3:c.415+760del
ENST00000630287.2:c.517-86del	ENSP00000486694.1:n.517-86del
NM_006516.2:c.679+7del	NP_006507.2:n.679+7del
NM_006516.3:c.679+7del	NP_006507.2:n.679+7del
NM_006516.4:c.679+7del MANE Select	NP_006507.2:n.679+7del