Canonical Allele Identifier: CA522496601

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1557646281
• gnomAD v2: 1-43395997-AGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG-A
• gnomAD v3: 1-42930326-AGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG-A
• gnomAD v4: 1-42930326-AGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTG-A
• MyVariant Identifiers: chr1:g.43395998_43396049del (hg19) ; chr1:g.42930327_42930378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930334_42930385del , CM000663.2:g.42930334_42930385del	GRCh38
NC_000001.10:g.43396005_43396056del , CM000663.1:g.43396005_43396056del	GRCh37
NC_000001.9:g.43168592_43168643del	NCBI36
NG_008232.1:g.33799_33850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+248_517-292del MANE Select	ENSP00000416293.2:n.516+248_517-292del
ENST00000674765.1:c.516+248_517-292del	ENSP00000501811.1:n.516+248_517-292del
ENST00000675112.1:n.539+248_540-292del
ENST00000676254.1:n.965+248_966-292del
ENST00000426263.7:c.516+248_517-292del	ENSP00000416293.2:n.516+248_517-292del
ENST00000439722.2:c.395+248_396-292del	ENSP00000395521.2:n.395+248_396-292del
ENST00000475162.3:c.415+248_415+299del
ENST00000625233.2:n.972_1023del
ENST00000630287.2:c.516+248_516+299del	ENSP00000486694.1:n.516+248_516+299del
NM_006516.2:c.516+248_517-292del	NP_006507.2:n.516+248_517-292del
NM_006516.3:c.516+248_517-292del	NP_006507.2:n.516+248_517-292del
NM_006516.4:c.516+248_517-292del MANE Select	NP_006507.2:n.516+248_517-292del