Canonical Allele Identifier: CA916082166

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 833945
• ClinVar RCV Id: RCV002346236 ; RCV003442151 ; RCV003591831
• dbSNP Id: rs1680928684

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863933_244863934delinsGG , CM000663.2:g.244863933_244863934delinsGG	GRCh38
NC_000001.10:g.245027235_245027236delinsGG , CM000663.1:g.245027235_245027236delinsGG	GRCh37
NC_000001.9:g.243093858_243093859delinsGG	NCBI36
NG_042184.1:g.5592_5593delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.52_53delinsCC
ENST00000283179.14:c.374_375delinsCC	ENSP00000283179.10:p.Glu125Ala
ENST00000444376.7:c.374_375delinsCC	ENSP00000393151.2:p.Glu125Ala
ENST00000476241.2:n.559_560delinsCC
ENST00000638475.1:c.158_159delinsCC	ENSP00000491305.1:p.Glu53Ala
ENST00000638952.1:n.605_606delinsCC
ENST00000640218.2:c.374_375delinsCC MANE Select	ENSP00000491215.1:p.Glu125Ala
ENST00000640306.1:c.374_375delinsCC	ENSP00000491685.1:p.Glu125Ala
ENST00000640440.1:c.74_75delinsCC	ENSP00000491263.1:p.Glu25Ala
ENST00000649899.1:n.598_599delinsCC
ENST00000283179.13:c.374_375delinsCC	ENSP00000283179.9:p.Glu125Ala
ENST00000444376.6:c.374_375delinsCC	ENSP00000393151.2:p.Glu125Ala
ENST00000476241.1:n.558_559delinsCC
NM_004501.3:c.374_375delinsCC	NP_004492.2:p.Glu125Ala
NM_031844.2:c.374_375delinsCC	NP_114032.2:p.Glu125Ala
NM_031844.3:c.374_375delinsCC MANE Select	NP_114032.2:p.Glu125Ala