Allele Registry

Canonical Allele Identifier: CA21251169

Gene: SLC2A1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.42929750_42929751insC

GRCh37 chr1:g.43395421_43395422insC

Linked Data - NCBI & NCI

dbSNP:

80359834

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929751dup , CM000663.2:g.42929751dup	GRCh38
NC_000001.10:g.43395422dup , CM000663.1:g.43395422dup	GRCh37
NC_000001.9:g.43168009dup	NCBI36
NG_008232.1:g.34426dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.709dup MANE Select	ENSP00000416293.2:p.Val237GlyfsTer4
ENST00000669445.1:c.57-18dup
ENST00000674765.1:c.709dup	ENSP00000501811.1:p.Val237GlyfsTer4
ENST00000675112.1:n.732dup
ENST00000676254.1:n.1158dup
ENST00000426263.7:c.709dup	ENSP00000416293.2:p.Val237GlyfsTer4
ENST00000439722.2:c.588dup	ENSP00000395521.2:n.588dup
ENST00000475162.3:c.415+875dup
ENST00000630287.2:c.*24dup	ENSP00000486694.1:n.*24dup
NM_006516.2:c.709dup	NP_006507.2:p.Val237GlyfsTer4
NM_006516.3:c.709dup	NP_006507.2:p.Val237GlyfsTer4
NM_006516.4:c.709dup MANE Select	NP_006507.2:p.Val237GlyfsTer4

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