Canonical Allele Identifier: CA2573132983

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 1684801
• ClinVar RCV Id: RCV002247893
• dbSNP Id: rs2102990769

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863956_244863973del , CM000663.2:g.244863956_244863973del	GRCh38
NC_000001.10:g.245027258_245027275del , CM000663.1:g.245027258_245027275del	GRCh37
NC_000001.9:g.243093881_243093898del	NCBI36
NG_042184.1:g.5554_5571del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704074.1:c.14_31del
ENST00000283179.14:c.336_353del	ENSP00000283179.10:p.Ala113_Ser118del
ENST00000444376.7:c.336_353del	ENSP00000393151.2:p.Ala113_Ser118del
ENST00000476241.2:n.521_538del
ENST00000638475.1:c.120_137del	ENSP00000491305.1:p.Ala41_Ser46del
ENST00000638952.1:n.567_584del
ENST00000640218.2:c.336_353del MANE Select	ENSP00000491215.1:p.Ala113_Ser118del
ENST00000640306.1:c.336_353del	ENSP00000491685.1:p.Ala113_Ser118del
ENST00000640440.1:c.36_53del	ENSP00000491263.1:p.Ala13_Ser18del
ENST00000649899.1:n.560_577del
ENST00000283179.13:c.336_353del	ENSP00000283179.9:p.Ala113_Ser118del
ENST00000444376.6:c.336_353del	ENSP00000393151.2:p.Ala113_Ser118del
ENST00000476241.1:n.520_537del
NM_004501.3:c.336_353del	NP_004492.2:p.Ala113_Ser118del
NM_031844.2:c.336_353del	NP_114032.2:p.Ala113_Ser118del
NM_031844.3:c.336_353del MANE Select	NP_114032.2:p.Ala113_Ser118del