Canonical Allele Identifier: CA658795665

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 503814
• ClinVar RCV Id: RCV000598756
• dbSNP Id: rs1553283982
• MyVariant Identifiers: chr1:g.245027357dup (hg19) ; chr1:g.244864055dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864055dup , CM000663.2:g.244864055dup	GRCh38
NC_000001.10:g.245027357dup , CM000663.1:g.245027357dup	GRCh37
NC_000001.9:g.243093980dup	NCBI36
NG_042184.1:g.5471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.253dup	ENSP00000283179.10:p.Glu85GlyfsTer?
ENST00000444376.7:c.253dup	ENSP00000393151.2:p.Glu85GlyfsTer?
ENST00000476241.2:n.438dup
ENST00000638475.1:c.37dup	ENSP00000491305.1:p.Glu13GlyfsTer?
ENST00000638952.1:n.484dup
ENST00000640218.2:c.253dup MANE Select	ENSP00000491215.1:p.Glu85GlyfsTer?
ENST00000640306.1:c.253dup	ENSP00000491685.1:p.Glu85GlyfsTer?
ENST00000649899.1:n.477dup
ENST00000283179.13:c.253dup	ENSP00000283179.9:p.Glu85GlyfsTer?
ENST00000444376.6:c.253dup	ENSP00000393151.2:p.Glu85GlyfsTer?
ENST00000476241.1:n.437dup
NM_004501.3:c.253dup	NP_004492.2:p.Glu85GlyfsTer?
NM_031844.2:c.253dup	NP_114032.2:p.Glu85GlyfsTer?
NM_031844.3:c.253dup MANE Select	NP_114032.2:p.Glu85GlyfsTer?