Canonical Allele Identifier: CA1165412205
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929306_42929307delinsAT , CM000663.2:g.42929306_42929307delinsAT GRCh38
NC_000001.10:g.43394977_43394978delinsAT , CM000663.1:g.43394977_43394978delinsAT GRCh37
NC_000001.9:g.43167564_43167565delinsAT NCBI36
NG_008232.1:g.34870_34871delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.875_876delinsAT MANE Select ENSP00000416293.2:p.Tyr292=
ENST00000674545.1:n.193_194delinsAT
ENST00000674765.1:c.875_876delinsAT ENSP00000501811.1:p.Tyr292=
ENST00000675112.1:n.1176_1177delinsAT
ENST00000676254.1:n.1324_1325delinsAT
ENST00000426263.7:c.875_876delinsAT ENSP00000416293.2:p.Tyr292=
ENST00000439722.2:c.754_755delinsAT ENSP00000395521.2:n.754_755delinsAT
ENST00000475162.3:c.415+1319_415+1320delinsAT
ENST00000630287.2:c.*190_*191delinsAT ENSP00000486694.1:n.*190_*191delinsAT
NM_006516.2:c.875_876delinsAT NP_006507.2:p.Tyr292=
NM_006516.3:c.875_876delinsAT NP_006507.2:p.Tyr292=
NM_006516.4:c.875_876delinsAT MANE Select NP_006507.2:p.Tyr292=