Canonical Allele Identifier: CA1943001249

Gene: UROS

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788968_125788973delinsGCCAGC , CM000672.2:g.125788968_125788973delinsGCCAGC	GRCh38
NC_000010.10:g.127477537_127477542delinsGCCAGC , CM000672.1:g.127477537_127477542delinsGCCAGC	GRCh37
NC_000010.9:g.127467527_127467532delinsGCCAGC	NCBI36
NG_011557.1:g.39296_39301delinsGCTGGC
NG_011557.2:g.39296_39301delinsGCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.693_698delinsGCTGGC	ENSP00000518871.1:p.Ala231=
ENST00000368797.10:c.693_698delinsGCTGGC MANE Select	ENSP00000357787.4:p.Ala231=
ENST00000465577.6:c.713_718delinsGCTGGC
ENST00000648427.1:c.*691_*696delinsGCTGGC	ENSP00000497909.1:n.*691_*696delinsGCTGGC
ENST00000649536.1:c.693_698delinsGCTGGC	ENSP00000497817.1:p.Ala231=
ENST00000650185.1:c.843_848delinsGCTGGC
ENST00000650472.1:n.3079_3084delinsGCTGGC
ENST00000650524.1:c.606_611delinsGCTGGC	ENSP00000498108.1:n.606_611delinsGCTGGC
ENST00000650587.1:c.774_779delinsGCTGGC	ENSP00000497366.1:p.Ala258=
ENST00000368786.5:c.693_698delinsGCTGGC	ENSP00000357775.1:p.Ala231=
ENST00000368797.8:c.693_698delinsGCTGGC	ENSP00000357787.4:p.Ala231=
ENST00000464267.1:n.790_795delinsGCTGGC
ENST00000465577.5:n.335_340delinsGCTGGC
ENST00000470483.1:n.381_386delinsGCTGGC
ENST00000484541.5:n.466_471delinsGCTGGC
ENST00000616800.4:c.161-3713_161-3708delinsGCTGGC
ENST00000622016.4:c.241-3134_241-3129delinsGCTGGC	ENSP00000483041.1:n.241-3134_241-3129delinsGCTGGC
NM_000375.2:c.693_698delinsGCTGGC	NP_000366.1:p.Ala231=
XM_005270137.2:c.774_779delinsGCTGGC	XP_005270194.1:p.Ala258=
XM_005270138.2:c.693_698delinsGCTGGC	XP_005270195.1:p.Ala231=
XM_005270139.2:c.661-3134_661-3129delinsGCTGGC	XP_005270196.1:n.661-3134_661-3129delinsGCTGGC
XM_006717960.2:c.774_779delinsGCTGGC	XP_006718023.1:p.Ala258=
XM_011540127.1:c.661-3713_661-3708delinsGCTGGC	XP_011538429.1:n.661-3713_661-3708delinsGCTGGC
XR_246103.2:n.873_878delinsGCTGGC
XR_945810.1:n.1103_1108delinsGCTGGC
NM_000375.3:c.693_698delinsGCTGGC MANE Select	NP_000366.1:p.Ala231=
NM_001324036.1:c.774_779delinsGCTGGC	NP_001310965.1:p.Ala258=
NM_001324037.1:c.693_698delinsGCTGGC	NP_001310966.1:p.Ala231=
NM_001324038.1:c.612_617delinsGCTGGC	NP_001310967.1:p.Ala204=
NR_136675.1:n.778_783delinsGCTGGC
NR_136676.1:n.1205_1210delinsGCTGGC
NR_136677.1:n.927-3134_927-3129delinsGCTGGC
NR_136678.1:n.689_694delinsGCTGGC
XM_011540127.2:c.661-3713_661-3708delinsGCTGGC	XP_011538429.1:n.661-3713_661-3708delinsGCTGGC
XM_017016611.2:c.774_779delinsGCTGGC	XP_016872100.2:p.Ala258=
XM_017016612.2:c.661-3134_661-3129delinsGCTGGC	XP_016872101.1:n.661-3134_661-3129delinsGCTGGC
XM_024448154.1:c.693_698delinsGCTGGC	XP_024303922.1:p.Ala231=
XR_002957010.1:n.2032_2037delinsGCTGGC
XR_246103.3:n.888_893delinsGCTGGC
XR_945810.2:n.1118_1123delinsGCTGGC
NM_001324036.2:c.774_779delinsGCTGGC	NP_001310965.1:p.Ala258=
NM_001324037.2:c.693_698delinsGCTGGC	NP_001310966.1:p.Ala231=
NM_001324038.2:c.612_617delinsGCTGGC	NP_001310967.1:p.Ala204=
NR_136675.2:n.768_773delinsGCTGGC
NR_136676.2:n.1195_1200delinsGCTGGC
NR_136678.2:n.679_684delinsGCTGGC
NR_136677.2:n.917-3134_917-3129delinsGCTGGC