Canonical Allele Identifier: CA1014270539

Gene: HNRNPU

Linked Data

• dbSNP Id: rs749084511
• gnomAD v3: 1-244864026-T-TTCC
• gnomAD v4: 1-244864026-T-TTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864035_244864037dup , CM000663.2:g.244864035_244864037dup	GRCh38
NC_000001.10:g.245027337_245027339dup , CM000663.1:g.245027337_245027339dup	GRCh37
NC_000001.9:g.243093960_243093962dup	NCBI36
NG_042184.1:g.5497_5499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.279_281dup	ENSP00000283179.10:p.Glu94_Gly95insGlu
ENST00000444376.7:c.279_281dup	ENSP00000393151.2:p.Glu94_Gly95insGlu
ENST00000476241.2:n.464_466dup
ENST00000638475.1:c.63_65dup	ENSP00000491305.1:p.Glu22_Gly23insGlu
ENST00000638952.1:n.510_512dup
ENST00000640218.2:c.279_281dup MANE Select	ENSP00000491215.1:p.Glu94_Gly95insGlu
ENST00000640306.1:c.279_281dup	ENSP00000491685.1:p.Glu94_Gly95insGlu
ENST00000649899.1:n.503_505dup
ENST00000283179.13:c.279_281dup	ENSP00000283179.9:p.Glu94_Gly95insGlu
ENST00000444376.6:c.279_281dup	ENSP00000393151.2:p.Glu94_Gly95insGlu
ENST00000476241.1:n.463_465dup
NM_004501.3:c.279_281dup	NP_004492.2:p.Glu94_Gly95insGlu
NM_031844.2:c.279_281dup	NP_114032.2:p.Glu94_Gly95insGlu
NM_031844.3:c.279_281dup MANE Select	NP_114032.2:p.Glu94_Gly95insGlu