Canonical Allele Identifier: CA546412883

Gene: UMPS

Linked Data

• dbSNP Id: rs1256311453
• gnomAD v2: 3-124456352-C-CGTAT
• gnomAD v3: 3-124737505-C-CGTAT
• gnomAD v4: 3-124737505-C-CGTAT
• MyVariant Identifiers: chr3:g.124456352_124456353insGTAT (hg19) ; chr3:g.124737505_124737506insGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737506_124737509dup , CM000665.2:g.124737506_124737509dup	GRCh38
NC_000003.11:g.124456353_124456356dup , CM000665.1:g.124456353_124456356dup	GRCh37
NC_000003.10:g.125939043_125939046dup	NCBI36
NG_017037.1:g.12141_12144dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-62_311-59dup MANE Select	ENSP00000232607.2:n.311-62_311-59dup
ENST00000232607.6:c.311-62_311-59dup	ENSP00000232607.2:n.311-62_311-59dup
ENST00000460034.5:c.*55-62_*55-59dup	ENSP00000420409.1:n.*55-62_*55-59dup
ENST00000462091.5:c.157-62_157-59dup	ENSP00000417893.1:n.157-62_157-59dup
ENST00000467167.5:c.*209-62_*209-59dup	ENSP00000419618.1:n.*209-62_*209-59dup
ENST00000474588.5:c.311-409_311-406dup	ENSP00000420348.1:n.311-409_311-406dup
ENST00000479719.5:c.311-62_311-59dup	ENSP00000420754.1:n.311-62_311-59dup
ENST00000497791.5:c.157-62_157-59dup	ENSP00000419121.1:n.157-62_157-59dup
ENST00000498715.1:n.29-62_29-59dup
NM_000373.3:c.311-62_311-59dup	NP_000364.1:n.311-62_311-59dup
NR_033434.1:n.263-62_263-59dup
NR_033437.1:n.516-62_516-59dup
XR_001740253.2:n.341-62_341-59dup
NM_000373.4:c.311-62_311-59dup MANE Select	NP_000364.1:n.311-62_311-59dup
NR_033434.2:n.177-62_177-59dup
NR_033437.2:n.430-62_430-59dup