Canonical Allele Identifier: CA1141188961

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929693_42929694delinsTT , CM000663.2:g.42929693_42929694delinsTT	GRCh38
NC_000001.10:g.43395364_43395365delinsTT , CM000663.1:g.43395364_43395365delinsTT	GRCh37
NC_000001.9:g.43167951_43167952delinsTT	NCBI36
NG_008232.1:g.34483_34484delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.766_767delinsAA MANE Select	ENSP00000416293.2:p.Lys256=
ENST00000669445.1:c.96_97delinsAA
ENST00000674765.1:c.766_767delinsAA	ENSP00000501811.1:p.Lys256=
ENST00000675112.1:n.789_790delinsAA
ENST00000676254.1:n.1215_1216delinsAA
ENST00000426263.7:c.766_767delinsAA	ENSP00000416293.2:p.Lys256=
ENST00000439722.2:c.645_646delinsAA	ENSP00000395521.2:n.645_646delinsAA
ENST00000475162.3:c.415+932_415+933delinsAA
ENST00000630287.2:c.*81_*82delinsAA	ENSP00000486694.1:n.*81_*82delinsAA
NM_006516.2:c.766_767delinsAA	NP_006507.2:p.Lys256=
NM_006516.3:c.766_767delinsAA	NP_006507.2:p.Lys256=
NM_006516.4:c.766_767delinsAA MANE Select	NP_006507.2:p.Lys256=