Canonical Allele Identifier: CA40505161

Gene: HNRNPU

Linked Data

• dbSNP Id: rs1048001429
• MyVariant Identifiers: chr1:g.245027179_245027181del (hg19) ; chr1:g.244863877_244863879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244863879_244863881del , CM000663.2:g.244863879_244863881del	GRCh38
NC_000001.10:g.245027181_245027183del , CM000663.1:g.245027181_245027183del	GRCh37
NC_000001.9:g.243093804_243093806del	NCBI36
NG_042184.1:g.5647_5649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704074.1:c.107_109del
ENST00000283179.14:c.429_431del	ENSP00000283179.10:p.Asp143del
ENST00000444376.7:c.429_431del	ENSP00000393151.2:p.Asp143del
ENST00000476241.2:n.614_616del
ENST00000638475.1:c.213_215del	ENSP00000491305.1:p.Asp71del
ENST00000638952.1:n.660_662del
ENST00000640218.2:c.429_431del MANE Select	ENSP00000491215.1:p.Asp143del
ENST00000640306.1:c.429_431del	ENSP00000491685.1:p.Asp143del
ENST00000640440.1:c.129_131del	ENSP00000491263.1:p.Asp43del
ENST00000649899.1:n.653_655del
ENST00000283179.13:c.429_431del	ENSP00000283179.9:p.Asp143del
ENST00000444376.6:c.429_431del	ENSP00000393151.2:p.Asp143del
ENST00000476241.1:n.613_615del
NM_004501.3:c.429_431del	NP_004492.2:p.Asp143del
NM_031844.2:c.429_431del	NP_114032.2:p.Asp143del
NM_031844.3:c.429_431del MANE Select	NP_114032.2:p.Asp143del