Canonical Allele Identifier: CA1486832

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 582192
• ClinVar RCV Id: RCV001537560 ; RCV002534459 ; RCV003980320
• dbSNP Id: rs770670938
• ExAC: 1:245027334 CTCCTCT / C
• gnomAD v2: 1-245027334-CTCCTCT-C
• gnomAD v3: 1-244864032-CTCCTCT-C
• gnomAD v4: 1-244864032-CTCCTCT-C
• MyVariant Identifiers: chr1:g.245027335_245027340del (hg19) ; chr1:g.244864033_244864038del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864044_244864049del , CM000663.2:g.244864044_244864049del	GRCh38
NC_000001.10:g.245027346_245027351del , CM000663.1:g.245027346_245027351del	GRCh37
NC_000001.9:g.243093969_243093974del	NCBI36
NG_042184.1:g.5488_5493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.270_275del	ENSP00000283179.10:p.Glu91_Glu92del
ENST00000444376.7:c.270_275del	ENSP00000393151.2:p.Glu91_Glu92del
ENST00000476241.2:n.455_460del
ENST00000638475.1:c.54_59del	ENSP00000491305.1:p.Glu19_Glu20del
ENST00000638952.1:n.501_506del
ENST00000640218.2:c.270_275del MANE Select	ENSP00000491215.1:p.Glu91_Glu92del
ENST00000640306.1:c.270_275del	ENSP00000491685.1:p.Glu91_Glu92del
ENST00000649899.1:n.494_499del
ENST00000283179.13:c.270_275del	ENSP00000283179.9:p.Glu91_Glu92del
ENST00000444376.6:c.270_275del	ENSP00000393151.2:p.Glu91_Glu92del
ENST00000476241.1:n.454_459del
NM_004501.3:c.270_275del	NP_004492.2:p.Glu91_Glu92del
NM_031844.2:c.270_275del	NP_114032.2:p.Glu91_Glu92del
NM_031844.3:c.270_275del MANE Select	NP_114032.2:p.Glu91_Glu92del