Canonical Allele Identifier: CA2645200465

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930653-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930655_42930656del , CM000663.2:g.42930655_42930656del	GRCh38
NC_000001.10:g.43396326_43396327del , CM000663.1:g.43396326_43396327del	GRCh37
NC_000001.9:g.43168913_43168914del	NCBI36
NG_008232.1:g.33522_33523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.487_488del MANE Select	ENSP00000416293.2:p.Gly163HisfsTer?
ENST00000674765.1:c.487_488del	ENSP00000501811.1:p.Gly163HisfsTer?
ENST00000675112.1:n.510_511del
ENST00000676254.1:n.936_937del
ENST00000426263.7:c.487_488del	ENSP00000416293.2:p.Gly163HisfsTer?
ENST00000439722.2:c.366_367del	ENSP00000395521.2:n.366_367del
ENST00000475162.3:c.386_387del
ENST00000625233.2:n.695_696del
ENST00000630287.2:c.487_488del	ENSP00000486694.1:p.Gly163HisfsTer?
NM_006516.2:c.487_488del	NP_006507.2:p.Gly163HisfsTer?
NM_006516.3:c.487_488del	NP_006507.2:p.Gly163HisfsTer?
NM_006516.4:c.487_488del MANE Select	NP_006507.2:p.Gly163HisfsTer?