Canonical Allele Identifier: CA661165834

Gene: UROS

Linked Data

• dbSNP Id: rs764517184
• gnomAD v3: 10-125788819-GCCAGC-G
• gnomAD v4: 10-125788819-GCCAGC-G
• MyVariant Identifiers: chr10:g.127477389_127477393del (hg19) ; chr10:g.125788820_125788824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788829_125788833del , CM000672.2:g.125788829_125788833del	GRCh38
NC_000010.10:g.127477398_127477402del , CM000672.1:g.127477398_127477402del	GRCh37
NC_000010.9:g.127467388_127467392del	NCBI36
NG_011557.1:g.39445_39449del
NG_011557.2:g.39445_39449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.*44_*48del	ENSP00000518871.1:n.*44_*48del
ENST00000368797.10:c.*44_*48del MANE Select	ENSP00000357787.4:n.*44_*48del
ENST00000465577.6:c.862_866del
ENST00000648427.1:c.*840_*844del	ENSP00000497909.1:n.*840_*844del
ENST00000649536.1:c.*44_*48del	ENSP00000497817.1:n.*44_*48del
ENST00000650472.1:n.3228_3232del
ENST00000650524.1:c.755_759del	ENSP00000498108.1:n.755_759del
ENST00000650587.1:c.*44_*48del	ENSP00000497366.1:n.*44_*48del
ENST00000368786.5:c.*44_*48del	ENSP00000357775.1:n.*44_*48del
ENST00000368797.8:c.*44_*48del	ENSP00000357787.4:n.*44_*48del
ENST00000464267.1:n.939_943del
ENST00000465577.5:n.484_488del
ENST00000470483.1:n.530_534del
ENST00000484541.5:n.615_619del
ENST00000616800.4:c.161-3564_161-3560del
ENST00000622016.4:c.241-2985_241-2981del	ENSP00000483041.1:n.241-2985_241-2981del
NM_000375.2:c.*44_*48del	NP_000366.1:n.*44_*48del
XM_005270137.2:c.*44_*48del	XP_005270194.1:n.*44_*48del
XM_005270138.2:c.*44_*48del	XP_005270195.1:n.*44_*48del
XM_005270139.2:c.661-2985_661-2981del	XP_005270196.1:n.661-2985_661-2981del
XM_006717960.2:c.*44_*48del	XP_006718023.1:n.*44_*48del
XM_011540127.1:c.661-3564_661-3560del	XP_011538429.1:n.661-3564_661-3560del
XR_246103.2:n.1022_1026del
XR_945810.1:n.1252_1256del
NM_000375.3:c.*44_*48del MANE Select	NP_000366.1:n.*44_*48del
NM_001324036.1:c.*44_*48del	NP_001310965.1:n.*44_*48del
NM_001324037.1:c.*44_*48del	NP_001310966.1:n.*44_*48del
NM_001324038.1:c.*44_*48del	NP_001310967.1:n.*44_*48del
NR_136675.1:n.927_931del
NR_136676.1:n.1354_1358del
NR_136677.1:n.927-2985_927-2981del
NR_136678.1:n.838_842del
XM_011540127.2:c.661-3564_661-3560del	XP_011538429.1:n.661-3564_661-3560del
XM_017016611.2:c.*44_*48del	XP_016872100.2:n.*44_*48del
XM_017016612.2:c.661-2985_661-2981del	XP_016872101.1:n.661-2985_661-2981del
XM_024448154.1:c.*44_*48del	XP_024303922.1:n.*44_*48del
XR_002957010.1:n.2181_2185del
XR_246103.3:n.1037_1041del
XR_945810.2:n.1267_1271del
NM_001324036.2:c.*44_*48del	NP_001310965.1:n.*44_*48del
NM_001324037.2:c.*44_*48del	NP_001310966.1:n.*44_*48del
NM_001324038.2:c.*44_*48del	NP_001310967.1:n.*44_*48del
NR_136675.2:n.917_921del
NR_136676.2:n.1344_1348del
NR_136678.2:n.828_832del
NR_136677.2:n.917-2985_917-2981del