Canonical Allele Identifier: CA1141188960

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929670_42929671delinsGG , CM000663.2:g.42929670_42929671delinsGG	GRCh38
NC_000001.10:g.43395341_43395342delinsGG , CM000663.1:g.43395341_43395342delinsGG	GRCh37
NC_000001.9:g.43167928_43167929delinsGG	NCBI36
NG_008232.1:g.34506_34507delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.789_790delinsCC MANE Select	ENSP00000416293.2:p.Phe263=
ENST00000669445.1:c.119_120delinsCC
ENST00000674765.1:c.789_790delinsCC	ENSP00000501811.1:p.Phe263=
ENST00000675112.1:n.812_813delinsCC
ENST00000676254.1:n.1238_1239delinsCC
ENST00000426263.7:c.789_790delinsCC	ENSP00000416293.2:p.Phe263=
ENST00000439722.2:c.668_669delinsCC	ENSP00000395521.2:n.668_669delinsCC
ENST00000475162.3:c.415+955_415+956delinsCC
ENST00000630287.2:c.*104_*105delinsCC	ENSP00000486694.1:n.*104_*105delinsCC
NM_006516.2:c.789_790delinsCC	NP_006507.2:p.Phe263=
NM_006516.3:c.789_790delinsCC	NP_006507.2:p.Phe263=
NM_006516.4:c.789_790delinsCC MANE Select	NP_006507.2:p.Phe263=