Canonical Allele Identifier: CA2667352144

Gene: UMPS

Linked Data

• gnomAD v4: 3-124737348-T-TATAAATATACTGTATGTGTAACTGGCAAGTTTGGTATACAGAGTTGGCTTTATAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737367_124737421dup , CM000665.2:g.124737367_124737421dup	GRCh38
NC_000003.11:g.124456214_124456268dup , CM000665.1:g.124456214_124456268dup	GRCh37
NC_000003.10:g.125938904_125938958dup	NCBI36
NG_017037.1:g.12002_12056dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-201_311-147dup MANE Select	ENSP00000232607.2:n.311-201_311-147dup
ENST00000232607.6:c.311-201_311-147dup	ENSP00000232607.2:n.311-201_311-147dup
ENST00000460034.5:c.*55-201_*55-147dup	ENSP00000420409.1:n.*55-201_*55-147dup
ENST00000462091.5:c.157-201_157-147dup	ENSP00000417893.1:n.157-201_157-147dup
ENST00000467167.5:c.*209-201_*209-147dup	ENSP00000419618.1:n.*209-201_*209-147dup
ENST00000474588.5:c.311-548_311-494dup	ENSP00000420348.1:n.311-548_311-494dup
ENST00000479719.5:c.311-201_311-147dup	ENSP00000420754.1:n.311-201_311-147dup
ENST00000497791.5:c.157-201_157-147dup	ENSP00000419121.1:n.157-201_157-147dup
ENST00000498715.1:n.28+145_29-147dup
NM_000373.3:c.311-201_311-147dup	NP_000364.1:n.311-201_311-147dup
NR_033434.1:n.263-201_263-147dup
NR_033437.1:n.516-201_516-147dup
XR_001740253.2:n.341-201_341-147dup
NM_000373.4:c.311-201_311-147dup MANE Select	NP_000364.1:n.311-201_311-147dup
NR_033434.2:n.177-201_177-147dup
NR_033437.2:n.430-201_430-147dup