Canonical Allele Identifier: CA2846911474
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946335del , CM000675.2:g.51946335del GRCh38
NC_000013.10:g.52520471del , CM000675.1:g.52520471del GRCh37
NC_000013.9:g.51418472del NCBI36
NG_008806.1:g.70160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*842del ENSP00000489512.2:n.*842del
ENST00000673864.2:c.*1753del ENSP00000501045.2:n.*1753del
ENST00000674147.2:c.2388del ENSP00000500964.2:p.Gln797ArgfsTer18
ENST00000242839.10:c.3009del MANE Select ENSP00000242839.5:p.Gln1004ArgfsTer18
ENST00000344297.9:c.2388del ENSP00000342559.5:p.Gln797ArgfsTer18
ENST00000400366.6:c.2676del ENSP00000383217.3:p.Gln893ArgfsTer18
ENST00000448424.7:c.2757del ENSP00000416738.3:p.Gln920ArgfsTer18
ENST00000673772.1:c.2775del ENSP00000501168.1:p.Gln926ArgfsTer18
ENST00000673867.1:n.1156del
ENST00000674126.1:n.3372del
ENST00000674147.1:c.1944del ENSP00000500964.1:p.Gln649ArgfsTer18
ENST00000242839.8:c.3009del ENSP00000242839.4:p.Gln1004ArgfsTer18
ENST00000344297.8:c.2388del ENSP00000342559.5:p.Gln797ArgfsTer18
ENST00000400366.5:c.2676del ENSP00000383217.3:p.Gln893ArgfsTer18
ENST00000400370.8:c.1719del ENSP00000383221.3:p.Gln574ArgfsTer18
ENST00000418097.7:c.2866-2044del ENSP00000393343.2:n.2866-2044del
ENST00000448424.6:c.2775del ENSP00000416738.2:p.Gln926ArgfsTer18
ENST00000466629.1:n.229del
ENST00000634296.1:c.970del
ENST00000634308.1:c.*110del ENSP00000489234.1:n.*110del
ENST00000634620.1:n.3753del
ENST00000634810.1:n.2354del
ENST00000634844.1:c.2865del ENSP00000489398.1:p.Gln956ArgfsTer18
ENST00000635406.1:n.355del
NM_000053.3:c.3009del NP_000044.2:p.Gln1004ArgfsTer18
NM_001005918.2:c.2388del NP_001005918.1:p.Gln797ArgfsTer18
NM_001243182.1:c.2676del NP_001230111.1:p.Gln893ArgfsTer18
XM_005266423.2:c.2913del XP_005266480.1:p.Gln972ArgfsTer18
XM_005266424.3:c.2913del XP_005266481.1:p.Gln972ArgfsTer18
XM_005266427.2:c.2775del XP_005266484.1:p.Gln926ArgfsTer18
XM_005266428.1:c.2757del XP_005266485.1:p.Gln920ArgfsTer18
XM_005266430.3:c.3009del XP_005266487.1:p.Gln1004ArgfsTer18
XM_005266431.2:c.2973del XP_005266488.1:p.Gln992ArgfsTer18
XM_005266432.2:c.2523del XP_005266489.1:p.Gln842ArgfsTer18
XM_006719837.2:c.2913del XP_006719900.1:p.Gln972ArgfsTer18
XM_006719838.1:c.825del XP_006719901.1:p.Gln276ArgfsTer18
XM_006719839.1:c.825del XP_006719902.1:p.Gln276ArgfsTer?
XM_011535117.1:c.2913del XP_011533419.1:p.Gln972ArgfsTer18
XM_011535118.1:c.2874del XP_011533420.1:p.Gln959ArgfsTer18
XM_011535119.1:c.3009del XP_011533421.1:p.Gln1004ArgfsTer?
XM_011535120.1:c.2595del XP_011533422.1:p.Gln866ArgfsTer18
XM_011535121.1:c.2730+3672del XP_011533423.1:n.2730+3672del
XM_011535122.1:c.1677del XP_011533424.1:p.Gln560ArgfsTer18
XR_941601.1:n.3228del
XR_941602.1:n.3228del
XR_941603.1:n.3228del
XR_941604.1:n.3228del
NM_001330578.1:c.2775del NP_001317507.1:p.Gln926ArgfsTer18
NM_001330579.1:c.2757del NP_001317508.1:p.Gln920ArgfsTer18
XM_005266424.4:c.2913del XP_005266481.1:p.Gln972ArgfsTer18
XM_005266430.4:c.3009del XP_005266487.1:p.Gln1004ArgfsTer18
XM_005266431.4:c.2973del XP_005266488.1:p.Gln992ArgfsTer18
XM_006719837.3:c.2913del XP_006719900.1:p.Gln972ArgfsTer18
XM_011535117.3:c.2913del XP_011533419.1:p.Gln972ArgfsTer18
XM_017020627.1:c.2913del XP_016876116.1:p.Gln972ArgfsTer18
NM_000053.4:c.3009del MANE Select NP_000044.2:p.Gln1004ArgfsTer18
NM_001005918.3:c.2388del NP_001005918.1:p.Gln797ArgfsTer18
NM_001330579.2:c.2757del NP_001317508.1:p.Gln920ArgfsTer18
NM_001243182.2:c.2676del NP_001230111.1:p.Gln893ArgfsTer18
NM_001330578.2:c.2775del NP_001317507.1:p.Gln926ArgfsTer18