Canonical Allele Identifier: CA1014270555

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680932739
• gnomAD v3: 1-244864042-TCTTCC-T
• gnomAD v4: 1-244864042-TCTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864043_244864047del , CM000663.2:g.244864043_244864047del	GRCh38
NC_000001.10:g.245027345_245027349del , CM000663.1:g.245027345_245027349del	GRCh37
NC_000001.9:g.243093968_243093972del	NCBI36
NG_042184.1:g.5479_5483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.261_265del	ENSP00000283179.10:p.Glu88GlyfsTer?
ENST00000444376.7:c.261_265del	ENSP00000393151.2:p.Glu88GlyfsTer?
ENST00000476241.2:n.446_450del
ENST00000638475.1:c.45_49del	ENSP00000491305.1:p.Glu16GlyfsTer?
ENST00000638952.1:n.492_496del
ENST00000640218.2:c.261_265del MANE Select	ENSP00000491215.1:p.Glu88GlyfsTer?
ENST00000640306.1:c.261_265del	ENSP00000491685.1:p.Glu88GlyfsTer?
ENST00000649899.1:n.485_489del
ENST00000283179.13:c.261_265del	ENSP00000283179.9:p.Glu88GlyfsTer?
ENST00000444376.6:c.261_265del	ENSP00000393151.2:p.Glu88GlyfsTer?
ENST00000476241.1:n.445_449del
NM_004501.3:c.261_265del	NP_004492.2:p.Glu88GlyfsTer?
NM_031844.2:c.261_265del	NP_114032.2:p.Glu88GlyfsTer?
NM_031844.3:c.261_265del MANE Select	NP_114032.2:p.Glu88GlyfsTer?