Canonical Allele Identifier: CA1943001219

Gene: UROS

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788909_125788915delinsTGGCCAG , CM000672.2:g.125788909_125788915delinsTGGCCAG	GRCh38
NC_000010.10:g.127477478_127477484delinsTGGCCAG , CM000672.1:g.127477478_127477484delinsTGGCCAG	GRCh37
NC_000010.9:g.127467468_127467474delinsTGGCCAG	NCBI36
NG_011557.1:g.39354_39360delinsCTGGCCA
NG_011557.2:g.39354_39360delinsCTGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.751_757delinsCTGGCCA	ENSP00000518871.1:p.Leu251=
ENST00000368797.10:c.751_757delinsCTGGCCA MANE Select	ENSP00000357787.4:p.Leu251=
ENST00000465577.6:c.771_777delinsCTGGCCA
ENST00000648427.1:c.*749_*755delinsCTGGCCA	ENSP00000497909.1:n.*749_*755delinsCTGGCCA
ENST00000649536.1:c.751_757delinsCTGGCCA	ENSP00000497817.1:p.Leu251=
ENST00000650472.1:n.3137_3143delinsCTGGCCA
ENST00000650524.1:c.664_670delinsCTGGCCA	ENSP00000498108.1:n.664_670delinsCTGGCCA
ENST00000650587.1:c.832_838delinsCTGGCCA	ENSP00000497366.1:p.Leu278=
ENST00000368786.5:c.751_757delinsCTGGCCA	ENSP00000357775.1:p.Leu251=
ENST00000368797.8:c.751_757delinsCTGGCCA	ENSP00000357787.4:p.Leu251=
ENST00000464267.1:n.848_854delinsCTGGCCA
ENST00000465577.5:n.393_399delinsCTGGCCA
ENST00000470483.1:n.439_445delinsCTGGCCA
ENST00000484541.5:n.524_530delinsCTGGCCA
ENST00000616800.4:c.161-3655_161-3649delinsCTGGCCA
ENST00000622016.4:c.241-3076_241-3070delinsCTGGCCA	ENSP00000483041.1:n.241-3076_241-3070delinsCTGGCCA
NM_000375.2:c.751_757delinsCTGGCCA	NP_000366.1:p.Leu251=
XM_005270137.2:c.832_838delinsCTGGCCA	XP_005270194.1:p.Leu278=
XM_005270138.2:c.751_757delinsCTGGCCA	XP_005270195.1:p.Leu251=
XM_005270139.2:c.661-3076_661-3070delinsCTGGCCA	XP_005270196.1:n.661-3076_661-3070delinsCTGGCCA
XM_006717960.2:c.832_838delinsCTGGCCA	XP_006718023.1:p.Leu278=
XM_011540127.1:c.661-3655_661-3649delinsCTGGCCA	XP_011538429.1:n.661-3655_661-3649delinsCTGGCCA
XR_246103.2:n.931_937delinsCTGGCCA
XR_945810.1:n.1161_1167delinsCTGGCCA
NM_000375.3:c.751_757delinsCTGGCCA MANE Select	NP_000366.1:p.Leu251=
NM_001324036.1:c.832_838delinsCTGGCCA	NP_001310965.1:p.Leu278=
NM_001324037.1:c.751_757delinsCTGGCCA	NP_001310966.1:p.Leu251=
NM_001324038.1:c.670_676delinsCTGGCCA	NP_001310967.1:p.Leu224=
NR_136675.1:n.836_842delinsCTGGCCA
NR_136676.1:n.1263_1269delinsCTGGCCA
NR_136677.1:n.927-3076_927-3070delinsCTGGCCA
NR_136678.1:n.747_753delinsCTGGCCA
XM_011540127.2:c.661-3655_661-3649delinsCTGGCCA	XP_011538429.1:n.661-3655_661-3649delinsCTGGCCA
XM_017016611.2:c.832_838delinsCTGGCCA	XP_016872100.2:p.Leu278=
XM_017016612.2:c.661-3076_661-3070delinsCTGGCCA	XP_016872101.1:n.661-3076_661-3070delinsCTGGCCA
XM_024448154.1:c.751_757delinsCTGGCCA	XP_024303922.1:p.Leu251=
XR_002957010.1:n.2090_2096delinsCTGGCCA
XR_246103.3:n.946_952delinsCTGGCCA
XR_945810.2:n.1176_1182delinsCTGGCCA
NM_001324036.2:c.832_838delinsCTGGCCA	NP_001310965.1:p.Leu278=
NM_001324037.2:c.751_757delinsCTGGCCA	NP_001310966.1:p.Leu251=
NM_001324038.2:c.670_676delinsCTGGCCA	NP_001310967.1:p.Leu224=
NR_136675.2:n.826_832delinsCTGGCCA
NR_136676.2:n.1253_1259delinsCTGGCCA
NR_136678.2:n.737_743delinsCTGGCCA
NR_136677.2:n.917-3076_917-3070delinsCTGGCCA