Canonical Allele Identifier: CA898341013

Gene: UMPS

Linked Data

• dbSNP Id: rs1218703807
• gnomAD v3: 3-124737492-CAG-C
• gnomAD v4: 3-124737492-CAG-C
• MyVariant Identifiers: chr3:g.124456340_124456341del (hg19) ; chr3:g.124737493_124737494del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737495_124737496del , CM000665.2:g.124737495_124737496del	GRCh38
NC_000003.11:g.124456342_124456343del , CM000665.1:g.124456342_124456343del	GRCh37
NC_000003.10:g.125939032_125939033del	NCBI36
NG_017037.1:g.12130_12131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-73_311-72del MANE Select	ENSP00000232607.2:n.311-73_311-72del
ENST00000232607.6:c.311-73_311-72del	ENSP00000232607.2:n.311-73_311-72del
ENST00000460034.5:c.*55-73_*55-72del	ENSP00000420409.1:n.*55-73_*55-72del
ENST00000462091.5:c.157-73_157-72del	ENSP00000417893.1:n.157-73_157-72del
ENST00000467167.5:c.*209-73_*209-72del	ENSP00000419618.1:n.*209-73_*209-72del
ENST00000474588.5:c.311-420_311-419del	ENSP00000420348.1:n.311-420_311-419del
ENST00000479719.5:c.311-73_311-72del	ENSP00000420754.1:n.311-73_311-72del
ENST00000497791.5:c.157-73_157-72del	ENSP00000419121.1:n.157-73_157-72del
ENST00000498715.1:n.29-73_29-72del
NM_000373.3:c.311-73_311-72del	NP_000364.1:n.311-73_311-72del
NR_033434.1:n.263-73_263-72del
NR_033437.1:n.516-73_516-72del
XR_001740253.2:n.341-73_341-72del
NM_000373.4:c.311-73_311-72del MANE Select	NP_000364.1:n.311-73_311-72del
NR_033434.2:n.177-73_177-72del
NR_033437.2:n.430-73_430-72del