Canonical Allele Identifier: CA2645200455

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930649-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930650_42930651del , CM000663.2:g.42930650_42930651del	GRCh38
NC_000001.10:g.43396321_43396322del , CM000663.1:g.43396321_43396322del	GRCh37
NC_000001.9:g.43168908_43168909del	NCBI36
NG_008232.1:g.33526_33527del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.491_492del MANE Select	ENSP00000416293.2:p.Ile164SerfsTer?
ENST00000674765.1:c.491_492del	ENSP00000501811.1:p.Ile164SerfsTer?
ENST00000675112.1:n.514_515del
ENST00000676254.1:n.940_941del
ENST00000426263.7:c.491_492del	ENSP00000416293.2:p.Ile164SerfsTer?
ENST00000439722.2:c.370_371del	ENSP00000395521.2:n.370_371del
ENST00000475162.3:c.390_391del
ENST00000625233.2:n.699_700del
ENST00000630287.2:c.491_492del	ENSP00000486694.1:p.Ile164SerfsTer?
NM_006516.2:c.491_492del	NP_006507.2:p.Ile164SerfsTer?
NM_006516.3:c.491_492del	NP_006507.2:p.Ile164SerfsTer?
NM_006516.4:c.491_492del MANE Select	NP_006507.2:p.Ile164SerfsTer?