Canonical Allele Identifier: CA2580063540

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 2009944
• ClinVar RCV Id: RCV002842802

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863958_244863973del , CM000663.2:g.244863958_244863973del	GRCh38
NC_000001.10:g.245027260_245027275del , CM000663.1:g.245027260_245027275del	GRCh37
NC_000001.9:g.243093883_243093898del	NCBI36
NG_042184.1:g.5554_5569del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.14_29del
ENST00000283179.14:c.336_351del	ENSP00000283179.10:p.Ala113ArgfsTer?
ENST00000444376.7:c.336_351del	ENSP00000393151.2:p.Ala113ArgfsTer?
ENST00000476241.2:n.521_536del
ENST00000638475.1:c.120_135del	ENSP00000491305.1:p.Ala41ArgfsTer?
ENST00000638952.1:n.567_582del
ENST00000640218.2:c.336_351del MANE Select	ENSP00000491215.1:p.Ala113ArgfsTer?
ENST00000640306.1:c.336_351del	ENSP00000491685.1:p.Ala113ArgfsTer?
ENST00000640440.1:c.36_51del	ENSP00000491263.1:p.Ala13ArgfsTer?
ENST00000649899.1:n.560_575del
ENST00000283179.13:c.336_351del	ENSP00000283179.9:p.Ala113ArgfsTer?
ENST00000444376.6:c.336_351del	ENSP00000393151.2:p.Ala113ArgfsTer?
ENST00000476241.1:n.520_535del
NM_004501.3:c.336_351del	NP_004492.2:p.Ala113ArgfsTer?
NM_031844.2:c.336_351del	NP_114032.2:p.Ala113ArgfsTer?
NM_031844.3:c.336_351del MANE Select	NP_114032.2:p.Ala113ArgfsTer?