Canonical Allele Identifier: CA1486811

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 578564
• ClinVar RCV Id: RCV002533627
• dbSNP Id: rs747108904
• ExAC: 1:245027233 G / GCCT
• gnomAD v2: 1-245027233-G-GCCT
• gnomAD v3: 1-244863931-G-GCCT
• gnomAD v4: 1-244863931-G-GCCT
• MyVariant Identifiers: chr1:g.245027234_245027236dup (hg19) ; chr1:g.245027236_245027237insCCT (hg19) ; chr1:g.245027233_245027234insCCT (hg19) ; chr1:g.244863932_244863934dup (hg38) ; chr1:g.244863934_244863935insCCT (hg38) ; chr1:g.244863931_244863932insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863943_244863945dup , CM000663.2:g.244863943_244863945dup	GRCh38
NC_000001.10:g.245027245_245027247dup , CM000663.1:g.245027245_245027247dup	GRCh37
NC_000001.9:g.243093868_243093870dup	NCBI36
NG_042184.1:g.5592_5594dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.52_54dup
ENST00000283179.14:c.374_376dup	ENSP00000283179.10:p.Glu125_Ala126insGlu
ENST00000444376.7:c.374_376dup	ENSP00000393151.2:p.Glu125_Ala126insGlu
ENST00000476241.2:n.559_561dup
ENST00000638475.1:c.158_160dup	ENSP00000491305.1:p.Glu53_Ala54insGlu
ENST00000638952.1:n.605_607dup
ENST00000640218.2:c.374_376dup MANE Select	ENSP00000491215.1:p.Glu125_Ala126insGlu
ENST00000640306.1:c.374_376dup	ENSP00000491685.1:p.Glu125_Ala126insGlu
ENST00000640440.1:c.74_76dup	ENSP00000491263.1:p.Glu25_Ala26insGlu
ENST00000649899.1:n.598_600dup
ENST00000283179.13:c.374_376dup	ENSP00000283179.9:p.Glu125_Ala126insGlu
ENST00000444376.6:c.374_376dup	ENSP00000393151.2:p.Glu125_Ala126insGlu
ENST00000476241.1:n.558_560dup
NM_004501.3:c.374_376dup	NP_004492.2:p.Glu125_Ala126insGlu
NM_031844.2:c.374_376dup	NP_114032.2:p.Glu125_Ala126insGlu
NM_031844.3:c.374_376dup MANE Select	NP_114032.2:p.Glu125_Ala126insGlu