Canonical Allele Identifier: CA803526

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 675854
• ClinVar RCV Id: RCV000835237
• dbSNP Id: rs145350047
• ExAC: 1:43396211 ACT / A
• gnomAD v2: 1-43396211-ACT-A
• gnomAD v3: 1-42930540-ACT-A
• gnomAD v4: 1-42930540-ACT-A
• MyVariant Identifiers: chr1:g.43396212_43396213del (hg19) ; chr1:g.42930541_42930542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930543_42930544del , CM000663.2:g.42930543_42930544del	GRCh38
NC_000001.10:g.43396214_43396215del , CM000663.1:g.43396214_43396215del	GRCh37
NC_000001.9:g.43168801_43168802del	NCBI36
NG_008232.1:g.33635_33636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.516+84_516+85del MANE Select	ENSP00000416293.2:n.516+84_516+85del
ENST00000674765.1:c.516+84_516+85del	ENSP00000501811.1:n.516+84_516+85del
ENST00000675112.1:n.539+84_539+85del
ENST00000676254.1:n.965+84_965+85del
ENST00000426263.7:c.516+84_516+85del	ENSP00000416293.2:n.516+84_516+85del
ENST00000439722.2:c.395+84_395+85del	ENSP00000395521.2:n.395+84_395+85del
ENST00000475162.3:c.415+84_415+85del
ENST00000625233.2:n.808_809del
ENST00000630287.2:c.516+84_516+85del	ENSP00000486694.1:n.516+84_516+85del
NM_006516.2:c.516+84_516+85del	NP_006507.2:n.516+84_516+85del
NM_006516.3:c.516+84_516+85del	NP_006507.2:n.516+84_516+85del
NM_006516.4:c.516+84_516+85del MANE Select	NP_006507.2:n.516+84_516+85del