Canonical Allele Identifier: CA546412890

Gene: UMPS

Linked Data

• dbSNP Id: rs1479573706
• gnomAD v2: 3-124456399-A-AT
• gnomAD v3: 3-124737552-A-AT
• gnomAD v4: 3-124737552-A-AT
• MyVariant Identifiers: chr3:g.124456400_124456401insT (hg19) ; chr3:g.124456399_124456400insT (hg19) ; chr3:g.124737553_124737554insT (hg38) ; chr3:g.124737552_124737553insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737558dup , CM000665.2:g.124737558dup	GRCh38
NC_000003.11:g.124456405dup , CM000665.1:g.124456405dup	GRCh37
NC_000003.10:g.125939095dup	NCBI36
NG_017037.1:g.12193dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.311-10dup MANE Select	ENSP00000232607.2:n.311-10dup
ENST00000232607.6:c.311-10dup	ENSP00000232607.2:n.311-10dup
ENST00000460034.5:c.*55-10dup	ENSP00000420409.1:n.*55-10dup
ENST00000462091.5:c.157-10dup	ENSP00000417893.1:n.157-10dup
ENST00000467167.5:c.*209-10dup	ENSP00000419618.1:n.*209-10dup
ENST00000474588.5:c.311-357dup	ENSP00000420348.1:n.311-357dup
ENST00000479719.5:c.311-10dup	ENSP00000420754.1:n.311-10dup
ENST00000497791.5:c.157-10dup	ENSP00000419121.1:n.157-10dup
ENST00000498715.1:n.29-10dup
NM_000373.3:c.311-10dup	NP_000364.1:n.311-10dup
NR_033434.1:n.263-10dup
NR_033437.1:n.516-10dup
XR_001740253.2:n.341-10dup
NM_000373.4:c.311-10dup MANE Select	NP_000364.1:n.311-10dup
NR_033434.2:n.177-10dup
NR_033437.2:n.430-10dup