Canonical Allele Identifier: CA2695703156

Gene: SLC2A1

Linked Data

• dbSNP Id: rs2124446621

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927812_42927813insAGCGCGATGGTCA , CM000663.2:g.42927812_42927813insAGCGCGATGGTCA	GRCh38
NC_000001.10:g.43393483_43393484insAGCGCGATGGTCA , CM000663.1:g.43393483_43393484insAGCGCGATGGTCA	GRCh37
NC_000001.9:g.43166070_43166071insAGCGCGATGGTCA	NCBI36
NG_008232.1:g.36364_36365insTGACCATCGCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1075-5_1075-4insTGACCATCGCGCT MANE Select	ENSP00000416293.2:n.1075-5_1075-4insTGACCATCGCGCT
ENST00000674545.1:n.1687_1688insTGACCATCGCGCT
ENST00000674765.1:c.1030-956_1030-955insTGACCATCGCGCT	ENSP00000501811.1:n.1030-956_1030-955insTGACCATCGCGCT
ENST00000675112.1:n.1376-5_1376-4insTGACCATCGCGCT
ENST00000676254.1:n.1524-5_1524-4insTGACCATCGCGCT
ENST00000426263.7:c.1075-5_1075-4insTGACCATCGCGCT	ENSP00000416293.2:n.1075-5_1075-4insTGACCATCGCGCT
ENST00000475162.3:c.416-835_416-834insTGACCATCGCGCT
ENST00000630287.2:c.*390-5_*390-4insTGACCATCGCGCT	ENSP00000486694.1:n.*390-5_*390-4insTGACCATCGCGCT
NM_006516.2:c.1075-5_1075-4insTGACCATCGCGCT	NP_006507.2:n.1075-5_1075-4insTGACCATCGCGCT
NM_006516.3:c.1075-5_1075-4insTGACCATCGCGCT	NP_006507.2:n.1075-5_1075-4insTGACCATCGCGCT
NM_006516.4:c.1075-5_1075-4insTGACCATCGCGCT MANE Select	NP_006507.2:n.1075-5_1075-4insTGACCATCGCGCT