Canonical Allele Identifier: CA1165412522

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643473261
• gnomAD v3: 1-42930115-T-TTC
• gnomAD v4: 1-42930115-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930116_42930117insCT , CM000663.2:g.42930116_42930117insCT	GRCh38
NC_000001.10:g.43395787_43395788insCT , CM000663.1:g.43395787_43395788insCT	GRCh37
NC_000001.9:g.43168374_43168375insCT	NCBI36
NG_008232.1:g.34061_34062insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-81_517-80insGA MANE Select	ENSP00000416293.2:n.517-81_517-80insGA
ENST00000674765.1:c.517-81_517-80insGA	ENSP00000501811.1:n.517-81_517-80insGA
ENST00000675112.1:n.540-81_540-80insGA
ENST00000676254.1:n.966-81_966-80insGA
ENST00000426263.7:c.517-81_517-80insGA	ENSP00000416293.2:n.517-81_517-80insGA
ENST00000439722.2:c.396-81_396-80insGA	ENSP00000395521.2:n.396-81_396-80insGA
ENST00000475162.3:c.415+510_415+511insGA
ENST00000630287.2:c.517-336_517-335insGA	ENSP00000486694.1:n.517-336_517-335insGA
NM_006516.2:c.517-81_517-80insGA	NP_006507.2:n.517-81_517-80insGA
NM_006516.3:c.517-81_517-80insGA	NP_006507.2:n.517-81_517-80insGA
NM_006516.4:c.517-81_517-80insGA MANE Select	NP_006507.2:n.517-81_517-80insGA