Allele Registry

Canonical Allele Identifier: CA019382

Gene: SLC2A1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.42929025_42929026del

GRCh37 chr1:g.43394696_43394697del

GRCh37 chr1:g.43394696_43394697delCA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000180298

ClinVar Variation:

95419

dbSNP:

80359838

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929027_42929028del , CM000663.2:g.42929027_42929028del	GRCh38
NC_000001.10:g.43394698_43394699del , CM000663.1:g.43394698_43394699del	GRCh37
NC_000001.9:g.43167285_43167286del	NCBI36
NG_008232.1:g.35151_35152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.980_981del MANE Select	ENSP00000416293.2:p.Val327GlyfsTer?
ENST00000674545.1:n.474_475del
ENST00000674765.1:c.980_981del	ENSP00000501811.1:p.Val327GlyfsTer?
ENST00000675112.1:n.1281_1282del
ENST00000676254.1:n.1429_1430del
ENST00000426263.7:c.980_981del	ENSP00000416293.2:p.Val327GlyfsTer?
ENST00000439722.2:c.859_860del	ENSP00000395521.2:n.859_860del
ENST00000475162.3:c.415+1600_415+1601del
ENST00000630287.2:c.295_296del	ENSP00000486694.1:n.295_296del
NM_006516.2:c.980_981del	NP_006507.2:p.Val327GlyfsTer?
NM_006516.3:c.980_981del	NP_006507.2:p.Val327GlyfsTer?
NM_006516.4:c.980_981del MANE Select	NP_006507.2:p.Val327GlyfsTer?

Search 100 bp 5'

Search 100 bp 3'