Canonical Allele Identifier: CA1165411577
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927799_42927806delinsGTAGCTGC , CM000663.2:g.42927799_42927806delinsGTAGCTGC GRCh38
NC_000001.10:g.43393470_43393477delinsGTAGCTGC , CM000663.1:g.43393470_43393477delinsGTAGCTGC GRCh37
NC_000001.9:g.43166057_43166064delinsGTAGCTGC NCBI36
NG_008232.1:g.36371_36378delinsGCAGCTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1077_1084delinsGCAGCTAC MANE Select ENSP00000416293.2:p.Glu359=
ENST00000674545.1:n.1694_1701delinsGCAGCTAC
ENST00000674765.1:c.1030-949_1030-942delinsGCAGCTAC ENSP00000501811.1:n.1030-949_1030-942delinsGCAGCTAC
ENST00000675112.1:n.1378_1385delinsGCAGCTAC
ENST00000676254.1:n.1526_1533delinsGCAGCTAC
ENST00000426263.7:c.1077_1084delinsGCAGCTAC ENSP00000416293.2:p.Glu359=
ENST00000475162.3:c.416-828_416-821delinsGCAGCTAC
ENST00000630287.2:c.*392_*399delinsGCAGCTAC ENSP00000486694.1:n.*392_*399delinsGCAGCTAC
NM_006516.2:c.1077_1084delinsGCAGCTAC NP_006507.2:p.Glu359=
NM_006516.3:c.1077_1084delinsGCAGCTAC NP_006507.2:p.Glu359=
NM_006516.4:c.1077_1084delinsGCAGCTAC MANE Select NP_006507.2:p.Glu359=