Canonical Allele Identifier: CA16617125
Gene: HNRNPU HGNC NCBI

Linked Data

ClinVar Variation Id: 424511
ClinVar RCV Id: RCV000482404
dbSNP Id: rs1064797011
MyVariant Identifiers: chr1:g.245020996del (hg19) chr1:g.244857694del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244857694del , CM000663.2:g.244857694del GRCh38
NC_000001.10:g.245020996del , CM000663.1:g.245020996del GRCh37
NC_000001.9:g.243087619del NCBI36
NG_042184.1:g.11832del

Transcript Alleles

HGVS Amino-acid change
ENST00000639628.2:c.690del ENSP00000491340.1:p.Gly231GlufsTer?
ENST00000704074.1:c.1139del
ENST00000283179.14:c.1275del ENSP00000283179.10:p.Gly426GlufsTer?
ENST00000366525.8:n.1131del
ENST00000440865.2:c.849del ENSP00000410728.2:p.Gly284GlufsTer?
ENST00000444376.7:c.1461del ENSP00000393151.2:p.Gly488GlufsTer?
ENST00000468690.2:n.1871del
ENST00000476241.2:n.3632del
ENST00000483966.3:c.501del ENSP00000492573.1:p.Gly168GlufsTer?
ENST00000638230.1:c.628del
ENST00000638301.1:c.690del ENSP00000491807.1:p.Gly231GlufsTer?
ENST00000638475.1:c.1227del ENSP00000491305.1:p.Gly410GlufsTer?
ENST00000638716.1:c.684del ENSP00000491601.1:p.Gly229GlufsTer?
ENST00000638952.1:n.3735del
ENST00000639628.1:c.690del ENSP00000491340.1:p.Gly231GlufsTer?
ENST00000639667.1:n.3508del
ENST00000639824.1:c.94del
ENST00000639880.1:c.*454del ENSP00000490988.1:n.*454del
ENST00000640001.1:c.690del ENSP00000491294.1:p.Gly231GlufsTer?
ENST00000640056.1:c.841del ENSP00000492620.1:n.841del
ENST00000640218.2:c.1518del MANE Select ENSP00000491215.1:p.Gly507GlufsTer?
ENST00000640306.1:c.1461del ENSP00000491685.1:p.Gly488GlufsTer?
ENST00000649899.1:n.1685del
ENST00000283179.13:c.1518del ENSP00000283179.9:p.Gly507GlufsTer?
ENST00000366525.7:n.1258del
ENST00000444376.6:c.1461del ENSP00000393151.2:p.Gly488GlufsTer?
ENST00000483966.2:n.24del
NM_004501.3:c.1461del NP_004492.2:p.Gly488GlufsTer?
NM_031844.2:c.1518del NP_114032.2:p.Gly507GlufsTer?
NM_031844.3:c.1518del MANE Select NP_114032.2:p.Gly507GlufsTer?
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