Canonical Allele Identifier: CA40505259

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 856993
• ClinVar RCV Id: RCV002553924
• dbSNP Id: rs772147656
• gnomAD v2: 1-245027346-TTCCTCC-T
• gnomAD v4: 1-244864044-TTCCTCC-T
• MyVariant Identifiers: chr1:g.245027347_245027352del (hg19) ; chr1:g.244864045_244864050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244864050_244864055del , CM000663.2:g.244864050_244864055del	GRCh38
NC_000001.10:g.245027352_245027357del , CM000663.1:g.245027352_245027357del	GRCh37
NC_000001.9:g.243093975_243093980del	NCBI36
NG_042184.1:g.5476_5481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283179.14:c.258_263del	ENSP00000283179.10:p.Glu87_Glu88del
ENST00000444376.7:c.258_263del	ENSP00000393151.2:p.Glu87_Glu88del
ENST00000476241.2:n.443_448del
ENST00000638475.1:c.42_47del	ENSP00000491305.1:p.Glu15_Glu16del
ENST00000638952.1:n.489_494del
ENST00000640218.2:c.258_263del MANE Select	ENSP00000491215.1:p.Glu87_Glu88del
ENST00000640306.1:c.258_263del	ENSP00000491685.1:p.Glu87_Glu88del
ENST00000649899.1:n.482_487del
ENST00000283179.13:c.258_263del	ENSP00000283179.9:p.Glu87_Glu88del
ENST00000444376.6:c.258_263del	ENSP00000393151.2:p.Glu87_Glu88del
ENST00000476241.1:n.442_447del
NM_004501.3:c.258_263del	NP_004492.2:p.Glu87_Glu88del
NM_031844.2:c.258_263del	NP_114032.2:p.Glu87_Glu88del
NM_031844.3:c.258_263del MANE Select	NP_114032.2:p.Glu87_Glu88del