Canonical Allele Identifier: CA1165412722

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930597_42930601delinsCCAGG , CM000663.2:g.42930597_42930601delinsCCAGG	GRCh38
NC_000001.10:g.43396268_43396272delinsCCAGG , CM000663.1:g.43396268_43396272delinsCCAGG	GRCh37
NC_000001.9:g.43168855_43168859delinsCCAGG	NCBI36
NG_008232.1:g.33576_33580delinsCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+25_516+29delinsCCTGG MANE Select	ENSP00000416293.2:n.516+25_516+29delinsCCTGG
ENST00000674765.1:c.516+25_516+29delinsCCTGG	ENSP00000501811.1:n.516+25_516+29delinsCCTGG
ENST00000675112.1:n.539+25_539+29delinsCCTGG
ENST00000676254.1:n.965+25_965+29delinsCCTGG
ENST00000426263.7:c.516+25_516+29delinsCCTGG	ENSP00000416293.2:n.516+25_516+29delinsCCTGG
ENST00000439722.2:c.395+25_395+29delinsCCTGG	ENSP00000395521.2:n.395+25_395+29delinsCCTGG
ENST00000475162.3:c.415+25_415+29delinsCCTGG
ENST00000625233.2:n.749_753delinsCCTGG
ENST00000630287.2:c.516+25_516+29delinsCCTGG	ENSP00000486694.1:n.516+25_516+29delinsCCTGG
NM_006516.2:c.516+25_516+29delinsCCTGG	NP_006507.2:n.516+25_516+29delinsCCTGG
NM_006516.3:c.516+25_516+29delinsCCTGG	NP_006507.2:n.516+25_516+29delinsCCTGG
NM_006516.4:c.516+25_516+29delinsCCTGG MANE Select	NP_006507.2:n.516+25_516+29delinsCCTGG