Canonical Allele Identifier: CA933565285

Gene: UROS

Linked Data

• dbSNP Id: rs1854174119
• gnomAD v3: 10-125823233-G-GCGCGCAGCTAGGCGCT
• gnomAD v4: 10-125823233-G-GCGCGCAGCTAGGCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823240_125823255dup , CM000672.2:g.125823240_125823255dup	GRCh38
NC_000010.10:g.127511809_127511824dup , CM000672.1:g.127511809_127511824dup	GRCh37
NC_000010.9:g.127501799_127501814dup	NCBI36
NG_011557.1:g.5020_5035dup
NG_029095.1:g.4706_4721dup
NG_011557.2:g.5020_5035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.-247_-232dup	ENSP00000518871.1:n.-247_-232dup
ENST00000368797.10:c.-247_-232dup MANE Select	ENSP00000357787.4:n.-247_-232dup
NM_000375.2:c.-247_-232dup	NP_000366.1:n.-247_-232dup
NM_000375.3:c.-247_-232dup MANE Select	NP_000366.1:n.-247_-232dup
NM_001324036.1:c.-247_-232dup	NP_001310965.1:n.-247_-232dup
NM_001324037.1:c.-247_-232dup	NP_001310966.1:n.-247_-232dup
NM_001324038.1:c.-247_-232dup	NP_001310967.1:n.-247_-232dup
NM_001324039.1:c.-247_-232dup	NP_001310968.1:n.-247_-232dup
NR_136675.1:n.20_35dup
NR_136676.1:n.20_35dup
NR_136677.1:n.20_35dup
NR_136678.1:n.20_35dup
XM_024448155.1:c.-247_-232dup	XP_024303923.1:n.-247_-232dup
NM_001324036.2:c.-247_-232dup	NP_001310965.1:n.-247_-232dup
NM_001324037.2:c.-247_-232dup	NP_001310966.1:n.-247_-232dup
NM_001324038.2:c.-247_-232dup	NP_001310967.1:n.-247_-232dup
NR_136675.2:n.10_25dup
NR_136676.2:n.10_25dup
NR_136678.2:n.10_25dup
NM_001324039.2:c.-247_-232dup	NP_001310968.1:n.-247_-232dup
NR_136677.2:n.10_25dup