Canonical Allele Identifier: CA019008

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 159922
• ClinVar RCV Id: RCV000147519
• dbSNP Id: rs587784391
• MyVariant Identifiers: chr1:g.43393465del (hg19) ; chr1:g.42927794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927795del , CM000663.2:g.42927795del	GRCh38
NC_000001.10:g.43393466del , CM000663.1:g.43393466del	GRCh37
NC_000001.9:g.43166053del	NCBI36
NG_008232.1:g.36383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1089del MANE Select	ENSP00000416293.2:p.Trp363Ter
ENST00000674545.1:n.1706del
ENST00000674765.1:c.1030-937del	ENSP00000501811.1:n.1030-937del
ENST00000675112.1:n.1390del
ENST00000676254.1:n.1538del
ENST00000426263.7:c.1089del	ENSP00000416293.2:p.Trp363Ter
ENST00000475162.3:c.416-816del
ENST00000630287.2:c.*404del	ENSP00000486694.1:n.*404del
NM_006516.2:c.1089del	NP_006507.2:p.Trp363Ter
NM_006516.3:c.1089del	NP_006507.2:p.Trp363Ter
NM_006516.4:c.1089del MANE Select	NP_006507.2:p.Trp363Ter