Canonical Allele Identifier: CA16603179
Gene: HNRNPU HGNC NCBI

Linked Data

ClinVar Variation Id: 376822
ClinVar RCV Id: RCV000433810
dbSNP Id: rs1057520065
MyVariant Identifiers: chr1:g.245026982dupC (hg19) chr1:g.245026981_245026982insC (hg19) chr1:g.244863680dupC (hg38) chr1:g.244863679_244863680insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244863681dup , CM000663.2:g.244863681dup GRCh38
NC_000001.10:g.245026983dup , CM000663.1:g.245026983dup GRCh37
NC_000001.9:g.243093606dup NCBI36
NG_042184.1:g.5846dup

Transcript Alleles

HGVS Amino-acid change
ENST00000704074.1:c.306dup
ENST00000283179.14:c.628dup ENSP00000283179.10:p.Ala210GlyfsTer4
ENST00000444376.7:c.628dup ENSP00000393151.2:p.Ala210GlyfsTer14
ENST00000476241.2:n.813dup
ENST00000638475.1:c.412dup ENSP00000491305.1:p.Ala138GlyfsTer14
ENST00000638952.1:n.859dup
ENST00000640218.2:c.628dup MANE Select ENSP00000491215.1:p.Ala210GlyfsTer4
ENST00000640306.1:c.628dup ENSP00000491685.1:p.Ala210GlyfsTer14
ENST00000640440.1:c.328dup ENSP00000491263.1:p.Ala110GlyfsTer?
ENST00000649899.1:n.852dup
ENST00000283179.13:c.628dup ENSP00000283179.9:p.Ala210GlyfsTer4
ENST00000444376.6:c.628dup ENSP00000393151.2:p.Ala210GlyfsTer14
ENST00000476241.1:n.812dup
NM_004501.3:c.628dup NP_004492.2:p.Ala210GlyfsTer14
NM_031844.2:c.628dup NP_114032.2:p.Ala210GlyfsTer4
NM_031844.3:c.628dup MANE Select NP_114032.2:p.Ala210GlyfsTer4
Search 100 bp 5'
Search 100 bp 3'