Canonical Allele Identifier: CA2511979556
Gene: UROS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125789053_125789079del , CM000672.2:g.125789053_125789079del GRCh38
NC_000010.10:g.127477622_127477648del , CM000672.1:g.127477622_127477648del GRCh37
NC_000010.9:g.127467612_127467638del NCBI36
NG_011557.1:g.39192_39218del
NG_011557.2:g.39192_39218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000713579.1:c.661-72_661-46del ENSP00000518871.1:n.661-72_661-46del
ENST00000368797.10:c.661-72_661-46del MANE Select ENSP00000357787.4:n.661-72_661-46del
ENST00000465577.6:c.681-72_681-46del
ENST00000648427.1:c.*659-72_*659-46del ENSP00000497909.1:n.*659-72_*659-46del
ENST00000649536.1:c.661-72_661-46del ENSP00000497817.1:n.661-72_661-46del
ENST00000650185.1:c.811-72_811-46del
ENST00000650472.1:n.3047-72_3047-46del
ENST00000650524.1:c.574-72_574-46del ENSP00000498108.1:n.574-72_574-46del
ENST00000650587.1:c.742-72_742-46del ENSP00000497366.1:n.742-72_742-46del
ENST00000368786.5:c.661-72_661-46del ENSP00000357775.1:n.661-72_661-46del
ENST00000368797.8:c.661-72_661-46del ENSP00000357787.4:n.661-72_661-46del
ENST00000464267.1:n.758-72_758-46del
ENST00000465577.5:n.303-72_303-46del
ENST00000470483.1:n.349-72_349-46del
ENST00000484541.5:n.434-72_434-46del
ENST00000616800.4:c.161-3817_161-3791del
ENST00000622016.4:c.241-3238_241-3212del ENSP00000483041.1:n.241-3238_241-3212del
NM_000375.2:c.661-72_661-46del NP_000366.1:n.661-72_661-46del
XM_005270137.2:c.742-72_742-46del XP_005270194.1:n.742-72_742-46del
XM_005270138.2:c.661-72_661-46del XP_005270195.1:n.661-72_661-46del
XM_005270139.2:c.661-3238_661-3212del XP_005270196.1:n.661-3238_661-3212del
XM_006717960.2:c.742-72_742-46del XP_006718023.1:n.742-72_742-46del
XM_011540127.1:c.661-3817_661-3791del XP_011538429.1:n.661-3817_661-3791del
XR_246103.2:n.841-72_841-46del
XR_945810.1:n.1071-72_1071-46del
NM_000375.3:c.661-72_661-46del MANE Select NP_000366.1:n.661-72_661-46del
NM_001324036.1:c.742-72_742-46del NP_001310965.1:n.742-72_742-46del
NM_001324037.1:c.661-72_661-46del NP_001310966.1:n.661-72_661-46del
NM_001324038.1:c.580-72_580-46del NP_001310967.1:n.580-72_580-46del
NR_136675.1:n.746-72_746-46del
NR_136676.1:n.1173-72_1173-46del
NR_136677.1:n.927-3238_927-3212del
NR_136678.1:n.657-72_657-46del
XM_011540127.2:c.661-3817_661-3791del XP_011538429.1:n.661-3817_661-3791del
XM_017016611.2:c.742-72_742-46del XP_016872100.2:n.742-72_742-46del
XM_017016612.2:c.661-3238_661-3212del XP_016872101.1:n.661-3238_661-3212del
XM_024448154.1:c.661-72_661-46del XP_024303922.1:n.661-72_661-46del
XR_002957010.1:n.2000-72_2000-46del
XR_246103.3:n.856-72_856-46del
XR_945810.2:n.1086-72_1086-46del
NM_001324036.2:c.742-72_742-46del NP_001310965.1:n.742-72_742-46del
NM_001324037.2:c.661-72_661-46del NP_001310966.1:n.661-72_661-46del
NM_001324038.2:c.580-72_580-46del NP_001310967.1:n.580-72_580-46del
NR_136675.2:n.736-72_736-46del
NR_136676.2:n.1163-72_1163-46del
NR_136678.2:n.647-72_647-46del
NR_136677.2:n.917-3238_917-3212del