Canonical Allele Identifier: CA658683174

Gene: HNRNPU

Linked Data

• ClinVar Variation Id: 495241
• ClinVar RCV Id: RCV000585859
• dbSNP Id: rs1553283916
• MyVariant Identifiers: chr1:g.245027208_245027209del (hg19) ; chr1:g.244863906_244863907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863906_244863907del , CM000663.2:g.244863906_244863907del	GRCh38
NC_000001.10:g.245027208_245027209del , CM000663.1:g.245027208_245027209del	GRCh37
NC_000001.9:g.243093831_243093832del	NCBI36
NG_042184.1:g.5619_5620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.79_80del
ENST00000283179.14:c.401_402del	ENSP00000283179.10:p.Asp134GlyfsTer10
ENST00000444376.7:c.401_402del	ENSP00000393151.2:p.Asp134GlyfsTer10
ENST00000476241.2:n.586_587del
ENST00000638475.1:c.185_186del	ENSP00000491305.1:p.Asp62GlyfsTer10
ENST00000638952.1:n.632_633del
ENST00000640218.2:c.401_402del MANE Select	ENSP00000491215.1:p.Asp134GlyfsTer10
ENST00000640306.1:c.401_402del	ENSP00000491685.1:p.Asp134GlyfsTer10
ENST00000640440.1:c.101_102del	ENSP00000491263.1:p.Asp34GlyfsTer10
ENST00000649899.1:n.625_626del
ENST00000283179.13:c.401_402del	ENSP00000283179.9:p.Asp134GlyfsTer10
ENST00000444376.6:c.401_402del	ENSP00000393151.2:p.Asp134GlyfsTer10
ENST00000476241.1:n.585_586del
NM_004501.3:c.401_402del	NP_004492.2:p.Asp134GlyfsTer10
NM_031844.2:c.401_402del	NP_114032.2:p.Asp134GlyfsTer10
NM_031844.3:c.401_402del MANE Select	NP_114032.2:p.Asp134GlyfsTer10