Canonical Allele Identifier: CA1141188972

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930635_42930639delinsGAGGA , CM000663.2:g.42930635_42930639delinsGAGGA	GRCh38
NC_000001.10:g.43396306_43396310delinsGAGGA , CM000663.1:g.43396306_43396310delinsGAGGA	GRCh37
NC_000001.9:g.43168893_43168897delinsGAGGA	NCBI36
NG_008232.1:g.33538_33542delinsTCCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.503_507delinsTCCTC MANE Select	ENSP00000416293.2:p.Ile168=
ENST00000674765.1:c.503_507delinsTCCTC	ENSP00000501811.1:p.Ile168=
ENST00000675112.1:n.526_530delinsTCCTC
ENST00000676254.1:n.952_956delinsTCCTC
ENST00000426263.7:c.503_507delinsTCCTC	ENSP00000416293.2:p.Ile168=
ENST00000439722.2:c.382_386delinsTCCTC	ENSP00000395521.2:n.382_386delinsTCCTC
ENST00000475162.3:c.402_406delinsTCCTC
ENST00000625233.2:n.711_715delinsTCCTC
ENST00000630287.2:c.503_507delinsTCCTC	ENSP00000486694.1:p.Ile168=
NM_006516.2:c.503_507delinsTCCTC	NP_006507.2:p.Ile168=
NM_006516.3:c.503_507delinsTCCTC	NP_006507.2:p.Ile168=
NM_006516.4:c.503_507delinsTCCTC MANE Select	NP_006507.2:p.Ile168=