Canonical Allele Identifier: CA2805477
Gene: UVSSA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1348178del , CM000666.2:g.1348178del GRCh38
NC_000004.11:g.1341966del , CM000666.1:g.1341966del GRCh37
NC_000004.10:g.1331966del NCBI36
NG_032753.1:g.5863del

Transcript Alleles

HGVS Amino-acid Change
NM_020894.4:c.87del MANE Select NP_065945.2:p.Ile31PhefsTer9
ENST00000389851.10:c.87del MANE Select ENSP00000374501.4:p.Ile31PhefsTer9
NM_001317934.1:c.87del NP_001304863.1:p.Ile31PhefsTer9
NM_001317934.2:c.87del NP_001304863.1:p.Ile31PhefsTer9
NM_001317935.1:c.87del NP_001304864.1:p.Ile31PhefsTer9
NM_001317935.2:c.87del NP_001304864.1:p.Ile31PhefsTer9
NM_020894.2:c.87del NP_065945.2:p.Ile31PhefsTer9
NM_020894.3:c.87del NP_065945.2:p.Ile31PhefsTer9
ENST00000389851.8:c.87del ENSP00000374501.4:p.Ile31PhefsTer9
ENST00000507531.5:c.87del ENSP00000421741.1:p.Ile31PhefsTer9
ENST00000511216.5:c.87del ENSP00000425130.1:p.Ile31PhefsTer9
ENST00000511216.6:c.87del ENSP00000425130.1:p.Ile31PhefsTer9
ENST00000677286.1:c.87del ENSP00000503948.1:p.Ile31PhefsTer9
ENST00000677428.1:c.414del ENSP00000504268.1:p.Ile140PhefsTer9
ENST00000678994.1:c.87del ENSP00000504075.1:p.Ile31PhefsTer9
ENST00000679192.1:c.87del ENSP00000504544.1:p.Ile31PhefsTer9
ENST00000679242.1:c.87del ENSP00000503485.1:p.Ile31PhefsTer9
XM_005272290.3:c.87del XP_005272347.1:p.Ile31PhefsTer9
XM_006713897.2:c.87del XP_006713960.1:p.Ile31PhefsTer9
XM_011513519.1:c.414del XP_011511821.1:p.Ile140PhefsTer9
XM_011513520.1:c.414del XP_011511822.1:p.Ile140PhefsTer9
XM_011513521.1:c.414del XP_011511823.1:p.Ile140PhefsTer9
XM_011513522.1:c.414del XP_011511824.1:p.Ile140PhefsTer9
XM_011513523.1:c.87del XP_011511825.1:p.Ile31PhefsTer9
XM_011513524.1:c.87del XP_011511826.1:p.Ile31PhefsTer9
XM_011513525.1:c.87del XP_011511827.1:p.Ile31PhefsTer9
XM_011513526.1:c.87del XP_011511828.1:p.Ile31PhefsTer9
XM_011513527.1:c.87del XP_011511829.1:p.Ile31PhefsTer9
XM_011513528.1:c.87del XP_011511830.1:p.Ile31PhefsTer9
XM_011513529.1:c.414del XP_011511831.1:p.Ile140PhefsTer9
XM_011513530.1:c.414del XP_011511832.1:p.Ile140PhefsTer9
XM_011513531.1:c.414del XP_011511833.1:p.Ile140PhefsTer9
XM_011513532.1:c.414del XP_011511834.1:p.Ile140PhefsTer9
XM_011513535.1:c.414del XP_011511837.1:p.Ile140PhefsTer9
XM_011513536.1:c.414del XP_011511838.1:p.Ile140PhefsTer9
XM_011513537.1:c.414del XP_011511839.1:p.Ile140PhefsTer9
XM_011513538.1:c.414del XP_011511840.1:p.Ile140PhefsTer9
XM_017008490.1:c.87del XP_016863979.1:p.Ile31PhefsTer9
XM_017008491.1:c.87del XP_016863980.1:p.Ile31PhefsTer9
XM_017008492.2:c.87del XP_016863981.1:p.Ile31PhefsTer9
XM_017008493.2:c.87del XP_016863982.1:p.Ile31PhefsTer9
XM_017008494.2:c.87del XP_016863983.1:p.Ile31PhefsTer9
XM_017008496.1:c.414del XP_016863985.1:p.Ile140PhefsTer9
XM_017008497.2:c.414del XP_016863986.1:p.Ile140PhefsTer9
XM_017008498.2:c.87del XP_016863987.1:p.Ile31PhefsTer9
XM_017008499.1:c.87del XP_016863988.1:p.Ile31PhefsTer9
XR_001741298.1:n.89del
XR_001741299.1:n.89del
XR_001741300.1:n.89del
XR_001741301.1:n.89del
XR_001741302.1:n.858del
XR_001741303.1:n.858del
XR_001741304.1:n.858del
XR_001741305.1:n.359del
XR_924979.1:n.857del
XR_924981.1:n.859del
XR_924982.1:n.859del
XR_924984.1:n.859del
XR_924985.1:n.859del