Canonical Allele Identifier: CA1486831

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 659189
• ClinVar RCV Id: RCV002534887
• dbSNP Id: rs749084511
• ExAC: 1:245027328 T / TTCCTCC
• gnomAD v2: 1-245027328-T-TTCCTCC
• gnomAD v3: 1-244864026-T-TTCCTCC
• gnomAD v4: 1-244864026-T-TTCCTCC
• MyVariant Identifiers: chr1:g.245027331_245027332insTCCTCC (hg19) ; chr1:g.245027328_245027329insTCCTCC (hg19) ; chr1:g.244864029_244864030insTCCTCC (hg38) ; chr1:g.244864026_244864027insTCCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864032_244864037dup , CM000663.2:g.244864032_244864037dup	GRCh38
NC_000001.10:g.245027334_245027339dup , CM000663.1:g.245027334_245027339dup	GRCh37
NC_000001.9:g.243093957_243093962dup	NCBI36
NG_042184.1:g.5494_5499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.276_281dup	ENSP00000283179.10:p.Glu94_Gly95insGluGlu
ENST00000444376.7:c.276_281dup	ENSP00000393151.2:p.Glu94_Gly95insGluGlu
ENST00000476241.2:n.461_466dup
ENST00000638475.1:c.60_65dup	ENSP00000491305.1:p.Glu22_Gly23insGluGlu
ENST00000638952.1:n.507_512dup
ENST00000640218.2:c.276_281dup MANE Select	ENSP00000491215.1:p.Glu94_Gly95insGluGlu
ENST00000640306.1:c.276_281dup	ENSP00000491685.1:p.Glu94_Gly95insGluGlu
ENST00000649899.1:n.500_505dup
ENST00000283179.13:c.276_281dup	ENSP00000283179.9:p.Glu94_Gly95insGluGlu
ENST00000444376.6:c.276_281dup	ENSP00000393151.2:p.Glu94_Gly95insGluGlu
ENST00000476241.1:n.460_465dup
NM_004501.3:c.276_281dup	NP_004492.2:p.Glu94_Gly95insGluGlu
NM_031844.2:c.276_281dup	NP_114032.2:p.Glu94_Gly95insGluGlu
NM_031844.3:c.276_281dup MANE Select	NP_114032.2:p.Glu94_Gly95insGluGlu