Canonical Allele Identifier: CA2704001474

Gene: UMPS

Linked Data

• dbSNP Id: rs2150896440

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737798del , CM000665.2:g.124737798del	GRCh38
NC_000003.11:g.124456645del , CM000665.1:g.124456645del	GRCh37
NC_000003.10:g.125939335del	NCBI36
NG_017037.1:g.12433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.541del MANE Select	ENSP00000232607.2:p.Glu181ArgfsTer17
ENST00000232607.6:c.541del	ENSP00000232607.2:p.Glu181ArgfsTer17
ENST00000460034.5:c.*285del	ENSP00000420409.1:n.*285del
ENST00000462091.5:c.*213del	ENSP00000417893.1:n.*213del
ENST00000467167.5:c.*439del	ENSP00000419618.1:n.*439del
ENST00000474588.5:c.311-117del	ENSP00000420348.1:n.311-117del
ENST00000479719.5:c.541del	ENSP00000420754.1:p.Glu181ArgfsTer17
ENST00000497791.5:c.*213del	ENSP00000419121.1:n.*213del
ENST00000498715.1:n.259del
NM_000373.3:c.541del	NP_000364.1:p.Glu181ArgfsTer17
NR_033434.1:n.493del
NR_033437.1:n.746del
XR_001740253.2:n.571del
NM_000373.4:c.541del MANE Select	NP_000364.1:p.Glu181ArgfsTer17
NR_033434.2:n.407del
NR_033437.2:n.660del