Canonical Allele Identifier: CA2499214714

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1068292
• ClinVar RCV Id: RCV001379801
• dbSNP Id: rs2124446605

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927807_42927824del , CM000663.2:g.42927807_42927824del	GRCh38
NC_000001.10:g.43393478_43393495del , CM000663.1:g.43393478_43393495del	GRCh37
NC_000001.9:g.43166065_43166082del	NCBI36
NG_008232.1:g.36353_36370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-16_1076del
ENST00000674545.1:n.1676_1693del
ENST00000674765.1:c.1030-967_1030-950del	ENSP00000501811.1:n.1030-967_1030-950del
ENST00000675112.1:n.1376-16_1377del
ENST00000676254.1:n.1524-16_1525del
ENST00000426263.7:c.1075-16_1076del
ENST00000475162.3:c.416-846_416-829del
ENST00000630287.2:c.*390-16_*391del
NM_006516.2:c.1075-16_1076del
NM_006516.3:c.1075-16_1076del
NM_006516.4:c.1075-16_1076del