Canonical Allele Identifier: CA16617127
Gene: HNRNPU HGNC NCBI

Linked Data

ClinVar Variation Id: 420968
ClinVar RCV Id: RCV000478096
dbSNP Id: rs1064794823

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.244863737_244863758dup , CM000663.2:g.244863737_244863758dup GRCh38
NC_000001.10:g.245027039_245027060dup , CM000663.1:g.245027039_245027060dup GRCh37
NC_000001.9:g.243093662_243093683dup NCBI36
NG_042184.1:g.5768_5789dup

Transcript Alleles

HGVS Amino-acid change
ENST00000704074.1:c.228_249dup
ENST00000283179.14:c.550_571dup ENSP00000283179.10:p.Thr191SerfsTer30
ENST00000444376.7:c.550_571dup ENSP00000393151.2:p.Thr191SerfsTer?
ENST00000476241.2:n.735_756dup
ENST00000638475.1:c.334_355dup ENSP00000491305.1:p.Thr119SerfsTer?
ENST00000638952.1:n.781_802dup
ENST00000640218.2:c.550_571dup MANE Select ENSP00000491215.1:p.Thr191SerfsTer30
ENST00000640306.1:c.550_571dup ENSP00000491685.1:p.Thr191SerfsTer?
ENST00000640440.1:c.250_271dup ENSP00000491263.1:p.Thr91SerfsTer?
ENST00000649899.1:n.774_795dup
ENST00000283179.13:c.550_571dup ENSP00000283179.9:p.Thr191SerfsTer30
ENST00000444376.6:c.550_571dup ENSP00000393151.2:p.Thr191SerfsTer?
ENST00000476241.1:n.734_755dup
NM_004501.3:c.550_571dup NP_004492.2:p.Thr191SerfsTer?
NM_031844.2:c.550_571dup NP_114032.2:p.Thr191SerfsTer30
NM_031844.3:c.550_571dup MANE Select NP_114032.2:p.Thr191SerfsTer30