Canonical Allele Identifier: CA2604012957

Gene: UMPS

Linked Data

• gnomAD v3: 3-124737381-GGTATACAGAGTTGGCTTTATACATAAATATACTGTATGTGCAACTAGCAAGTTTGGTATACAGAATTGGTATACACATATACTGTATGTGTAACTGGCAAGTTTT-G
• gnomAD v4: 3-124737381-GGTATACAGAGTTGGCTTTATACATAAATATACTGTATGTGCAACTAGCAAGTTTGGTATACAGAATTGGTATACACATATACTGTATGTGTAACTGGCAAGTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737393_124737497del , CM000665.2:g.124737393_124737497del	GRCh38
NC_000003.11:g.124456240_124456344del , CM000665.1:g.124456240_124456344del	GRCh37
NC_000003.10:g.125938930_125939034del	NCBI36
NG_017037.1:g.12028_12132del

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-175_311-71del MANE Select	ENSP00000232607.2:n.311-175_311-71del
ENST00000232607.6:c.311-175_311-71del	ENSP00000232607.2:n.311-175_311-71del
ENST00000460034.5:c.*55-175_*55-71del	ENSP00000420409.1:n.*55-175_*55-71del
ENST00000462091.5:c.157-175_157-71del	ENSP00000417893.1:n.157-175_157-71del
ENST00000467167.5:c.*209-175_*209-71del	ENSP00000419618.1:n.*209-175_*209-71del
ENST00000474588.5:c.311-522_311-418del	ENSP00000420348.1:n.311-522_311-418del
ENST00000479719.5:c.311-175_311-71del	ENSP00000420754.1:n.311-175_311-71del
ENST00000497791.5:c.157-175_157-71del	ENSP00000419121.1:n.157-175_157-71del
ENST00000498715.1:n.28+171_29-71del
NM_000373.3:c.311-175_311-71del	NP_000364.1:n.311-175_311-71del
NR_033434.1:n.263-175_263-71del
NR_033437.1:n.516-175_516-71del
XR_001740253.2:n.341-175_341-71del
NM_000373.4:c.311-175_311-71del MANE Select	NP_000364.1:n.311-175_311-71del
NR_033434.2:n.177-175_177-71del
NR_033437.2:n.430-175_430-71del