Canonical Allele Identifier: CA2758240339

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737700_124737702del , CM000665.2:g.124737700_124737702del	GRCh38
NC_000003.11:g.124456547_124456549del , CM000665.1:g.124456547_124456549del	GRCh37
NC_000003.10:g.125939237_125939239del	NCBI36
NG_017037.1:g.12335_12337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.443_445del MANE Select	ENSP00000232607.2:p.Asp148del
ENST00000232607.6:c.443_445del	ENSP00000232607.2:p.Asp148del
ENST00000460034.5:c.*187_*189del	ENSP00000420409.1:n.*187_*189del
ENST00000462091.5:c.*115_*117del	ENSP00000417893.1:n.*115_*117del
ENST00000467167.5:c.*341_*343del	ENSP00000419618.1:n.*341_*343del
ENST00000474588.5:c.311-215_311-213del	ENSP00000420348.1:n.311-215_311-213del
ENST00000479719.5:c.443_445del	ENSP00000420754.1:p.Asp148del
ENST00000497791.5:c.*115_*117del	ENSP00000419121.1:n.*115_*117del
ENST00000498715.1:n.161_163del
NM_000373.3:c.443_445del	NP_000364.1:p.Asp148del
NR_033434.1:n.395_397del
NR_033437.1:n.648_650del
XR_001740253.2:n.473_475del
NM_000373.4:c.443_445del MANE Select	NP_000364.1:p.Asp148del
NR_033434.2:n.309_311del
NR_033437.2:n.562_564del