Canonical Allele Identifier: CA2577879397
Gene: UMPS HGNC NCBI

Linked Data

gnomAD v4: 3-124737482-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.124737486del , CM000665.2:g.124737486del GRCh38
NC_000003.11:g.124456333del , CM000665.1:g.124456333del GRCh37
NC_000003.10:g.125939023del NCBI36
NG_017037.1:g.12121del

Transcript Alleles

HGVS Amino-acid change
ENST00000232607.7:c.311-82del MANE Select ENSP00000232607.2:n.311-82del
ENST00000232607.6:c.311-82del ENSP00000232607.2:n.311-82del
ENST00000460034.5:c.*55-82del ENSP00000420409.1:n.*55-82del
ENST00000462091.5:c.157-82del ENSP00000417893.1:n.157-82del
ENST00000467167.5:c.*209-82del ENSP00000419618.1:n.*209-82del
ENST00000474588.5:c.311-429del ENSP00000420348.1:n.311-429del
ENST00000479719.5:c.311-82del ENSP00000420754.1:n.311-82del
ENST00000497791.5:c.157-82del ENSP00000419121.1:n.157-82del
ENST00000498715.1:n.29-82del
NM_000373.3:c.311-82del NP_000364.1:n.311-82del
NR_033434.1:n.263-82del
NR_033437.1:n.516-82del
XR_001740253.2:n.341-82del
NM_000373.4:c.311-82del MANE Select NP_000364.1:n.311-82del
NR_033434.2:n.177-82del
NR_033437.2:n.430-82del
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