Canonical Allele Identifier: CA1014270480

Gene: HNRNPU

Linked Data

• dbSNP Id: rs747108904
• gnomAD v3: 1-244863931-G-GCCTCCT
• gnomAD v4: 1-244863931-G-GCCTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863940_244863945dup , CM000663.2:g.244863940_244863945dup	GRCh38
NC_000001.10:g.245027242_245027247dup , CM000663.1:g.245027242_245027247dup	GRCh37
NC_000001.9:g.243093865_243093870dup	NCBI36
NG_042184.1:g.5589_5594dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.49_54dup
ENST00000283179.14:c.371_376dup	ENSP00000283179.10:p.Glu125_Ala126insGluGlu
ENST00000444376.7:c.371_376dup	ENSP00000393151.2:p.Glu125_Ala126insGluGlu
ENST00000476241.2:n.556_561dup
ENST00000638475.1:c.155_160dup	ENSP00000491305.1:p.Glu53_Ala54insGluGlu
ENST00000638952.1:n.602_607dup
ENST00000640218.2:c.371_376dup MANE Select	ENSP00000491215.1:p.Glu125_Ala126insGluGlu
ENST00000640306.1:c.371_376dup	ENSP00000491685.1:p.Glu125_Ala126insGluGlu
ENST00000640440.1:c.71_76dup	ENSP00000491263.1:p.Glu25_Ala26insGluGlu
ENST00000649899.1:n.595_600dup
ENST00000283179.13:c.371_376dup	ENSP00000283179.9:p.Glu125_Ala126insGluGlu
ENST00000444376.6:c.371_376dup	ENSP00000393151.2:p.Glu125_Ala126insGluGlu
ENST00000476241.1:n.555_560dup
NM_004501.3:c.371_376dup	NP_004492.2:p.Glu125_Ala126insGluGlu
NM_031844.2:c.371_376dup	NP_114032.2:p.Glu125_Ala126insGluGlu
NM_031844.3:c.371_376dup MANE Select	NP_114032.2:p.Glu125_Ala126insGluGlu