Canonical Allele Identifier: CA2499214723

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1076091
• ClinVar RCV Id: RCV001389872
• dbSNP Id: rs2124450132

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930691dup , CM000663.2:g.42930691dup	GRCh38
NC_000001.10:g.43396362dup , CM000663.1:g.43396362dup	GRCh37
NC_000001.9:g.43168949dup	NCBI36
NG_008232.1:g.33486dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.451dup MANE Select	ENSP00000416293.2:p.Ala151GlyfsTer?
ENST00000674765.1:c.451dup	ENSP00000501811.1:p.Ala151GlyfsTer?
ENST00000675112.1:n.474dup
ENST00000676254.1:n.900dup
ENST00000426263.7:c.451dup	ENSP00000416293.2:p.Ala151GlyfsTer?
ENST00000439722.2:c.330dup	ENSP00000395521.2:n.330dup
ENST00000475162.3:c.350dup
ENST00000625233.2:n.659dup
ENST00000630287.2:c.451dup	ENSP00000486694.1:p.Ala151GlyfsTer?
NM_006516.2:c.451dup	NP_006507.2:p.Ala151GlyfsTer?
NM_006516.3:c.451dup	NP_006507.2:p.Ala151GlyfsTer?
NM_006516.4:c.451dup MANE Select	NP_006507.2:p.Ala151GlyfsTer?