Canonical Allele Identifier: CA1014270553

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1680932618
• gnomAD v3: 1-244864039-TC-T
• gnomAD v4: 1-244864039-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864041del , CM000663.2:g.244864041del	GRCh38
NC_000001.10:g.245027343del , CM000663.1:g.245027343del	GRCh37
NC_000001.9:g.243093966del	NCBI36
NG_042184.1:g.5486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.268del	ENSP00000283179.10:p.Glu90LysfsTer17
ENST00000444376.7:c.268del	ENSP00000393151.2:p.Glu90LysfsTer17
ENST00000476241.2:n.453del
ENST00000638475.1:c.52del	ENSP00000491305.1:p.Glu18LysfsTer17
ENST00000638952.1:n.499del
ENST00000640218.2:c.268del MANE Select	ENSP00000491215.1:p.Glu90LysfsTer17
ENST00000640306.1:c.268del	ENSP00000491685.1:p.Glu90LysfsTer17
ENST00000649899.1:n.492del
ENST00000283179.13:c.268del	ENSP00000283179.9:p.Glu90LysfsTer17
ENST00000444376.6:c.268del	ENSP00000393151.2:p.Glu90LysfsTer17
ENST00000476241.1:n.452del
NM_004501.3:c.268del	NP_004492.2:p.Glu90LysfsTer17
NM_031844.2:c.268del	NP_114032.2:p.Glu90LysfsTer17
NM_031844.3:c.268del MANE Select	NP_114032.2:p.Glu90LysfsTer17