Canonical Allele Identifier: CA2645199557

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930177-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930178_42930179del , CM000663.2:g.42930178_42930179del	GRCh38
NC_000001.10:g.43395849_43395850del , CM000663.1:g.43395849_43395850del	GRCh37
NC_000001.9:g.43168436_43168437del	NCBI36
NG_008232.1:g.33998_33999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-144_517-143del MANE Select	ENSP00000416293.2:n.517-144_517-143del
ENST00000674765.1:c.517-144_517-143del	ENSP00000501811.1:n.517-144_517-143del
ENST00000675112.1:n.540-144_540-143del
ENST00000676254.1:n.966-144_966-143del
ENST00000426263.7:c.517-144_517-143del	ENSP00000416293.2:n.517-144_517-143del
ENST00000439722.2:c.396-144_396-143del	ENSP00000395521.2:n.396-144_396-143del
ENST00000475162.3:c.415+447_415+448del
ENST00000630287.2:c.517-399_517-398del	ENSP00000486694.1:n.517-399_517-398del
NM_006516.2:c.517-144_517-143del	NP_006507.2:n.517-144_517-143del
NM_006516.3:c.517-144_517-143del	NP_006507.2:n.517-144_517-143del
NM_006516.4:c.517-144_517-143del MANE Select	NP_006507.2:n.517-144_517-143del