Canonical Allele Identifier: CA247252

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 198543
• ClinVar RCV Id: RCV000189344 ; RCV000284359 ; RCV000396792 ; RCV000724290 ; RCV001087619
• dbSNP Id: rs531385270
• ExAC: 1:43394873 AG / A
• gnomAD v2: 1-43394873-AG-A
• gnomAD v3: 1-42929202-AG-A
• gnomAD v4: 1-42929202-AG-A
• MyVariant Identifiers: chr1:g.43394874del (hg19) ; chr1:g.42929203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929203del , CM000663.2:g.42929203del	GRCh38
NC_000001.10:g.43394874del , CM000663.1:g.43394874del	GRCh37
NC_000001.9:g.43167461del	NCBI36
NG_008232.1:g.34974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+7del MANE Select	ENSP00000416293.2:n.972+7del
ENST00000674545.1:n.297del
ENST00000674765.1:c.972+7del	ENSP00000501811.1:n.972+7del
ENST00000675112.1:n.1273+7del
ENST00000676254.1:n.1421+7del
ENST00000426263.7:c.972+7del	ENSP00000416293.2:n.972+7del
ENST00000439722.2:c.851+7del	ENSP00000395521.2:n.851+7del
ENST00000475162.3:c.415+1423del
ENST00000630287.2:c.*287+7del	ENSP00000486694.1:n.*287+7del
NM_006516.2:c.972+7del	NP_006507.2:n.972+7del
NM_006516.3:c.972+7del	NP_006507.2:n.972+7del
NM_006516.4:c.972+7del MANE Select	NP_006507.2:n.972+7del