Canonical Allele Identifier: CA1486835

Gene: HNRNPU

Linked Data

• dbSNP Id: rs759447370
• ExAC: 1:245027343 C / CTCT
• gnomAD v2: 1-245027343-C-CTCT
• MyVariant Identifiers: chr1:g.245027343_245027344insTCT (hg19) ; chr1:g.244864041_244864042insTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864044_244864046dup , CM000663.2:g.244864044_244864046dup	GRCh38
NC_000001.10:g.245027346_245027348dup , CM000663.1:g.245027346_245027348dup	GRCh37
NC_000001.9:g.243093969_243093971dup	NCBI36
NG_042184.1:g.5482_5484dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.264_266dup	ENSP00000283179.10:p.Glu89_Glu90insGlu
ENST00000444376.7:c.264_266dup	ENSP00000393151.2:p.Glu89_Glu90insGlu
ENST00000476241.2:n.449_451dup
ENST00000638475.1:c.48_50dup	ENSP00000491305.1:p.Glu17_Glu18insGlu
ENST00000638952.1:n.495_497dup
ENST00000640218.2:c.264_266dup MANE Select	ENSP00000491215.1:p.Glu89_Glu90insGlu
ENST00000640306.1:c.264_266dup	ENSP00000491685.1:p.Glu89_Glu90insGlu
ENST00000649899.1:n.488_490dup
ENST00000283179.13:c.264_266dup	ENSP00000283179.9:p.Glu89_Glu90insGlu
ENST00000444376.6:c.264_266dup	ENSP00000393151.2:p.Glu89_Glu90insGlu
ENST00000476241.1:n.448_450dup
NM_004501.3:c.264_266dup	NP_004492.2:p.Glu89_Glu90insGlu
NM_031844.2:c.264_266dup	NP_114032.2:p.Glu89_Glu90insGlu
NM_031844.3:c.264_266dup MANE Select	NP_114032.2:p.Glu89_Glu90insGlu