Canonical Allele Identifier: CA2695218734
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51942544dup , CM000675.2:g.51942544dup GRCh38
NC_000013.10:g.52516680dup , CM000675.1:g.52516680dup GRCh37
NC_000013.9:g.51414681dup NCBI36
NG_008806.1:g.73951dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*904dup ENSP00000489512.2:n.*904dup
ENST00000673864.2:c.*1998dup ENSP00000501045.2:n.*1998dup
ENST00000674147.2:c.2633dup ENSP00000500964.2:p.Glu879ArgfsTer?
ENST00000242839.10:c.3254dup MANE Select ENSP00000242839.5:p.Glu1086ArgfsTer?
ENST00000344297.9:c.2633dup ENSP00000342559.5:p.Glu879ArgfsTer?
ENST00000400366.6:c.2921dup ENSP00000383217.3:p.Glu975ArgfsTer?
ENST00000448424.7:c.3002dup ENSP00000416738.3:p.Glu1002ArgfsTer?
ENST00000673772.1:c.3020dup ENSP00000501168.1:p.Glu1008ArgfsTer?
ENST00000673867.1:n.3393dup
ENST00000674126.1:n.3617dup
ENST00000674147.1:c.2189dup ENSP00000500964.1:p.Glu731ArgfsTer?
ENST00000242839.8:c.3254dup ENSP00000242839.4:p.Glu1086ArgfsTer?
ENST00000344297.8:c.2633dup ENSP00000342559.5:p.Glu879ArgfsTer?
ENST00000400366.5:c.2921dup ENSP00000383217.3:p.Glu975ArgfsTer?
ENST00000400370.8:c.1964dup ENSP00000383221.3:p.Glu656ArgfsTer?
ENST00000418097.7:c.3059dup ENSP00000393343.2:p.Glu1021ArgfsTer?
ENST00000448424.6:c.3020dup ENSP00000416738.2:p.Glu1008ArgfsTer?
ENST00000634296.1:c.1032dup
ENST00000634308.1:c.*355dup ENSP00000489234.1:n.*355dup
ENST00000634620.1:n.3998dup
ENST00000634810.1:n.2599dup
ENST00000634844.1:c.3110dup ENSP00000489398.1:p.Glu1038ArgfsTer?
NM_000053.3:c.3254dup NP_000044.2:p.Glu1086ArgfsTer?
NM_001005918.2:c.2633dup NP_001005918.1:p.Glu879ArgfsTer?
NM_001243182.1:c.2921dup NP_001230111.1:p.Glu975ArgfsTer?
XM_005266423.2:c.3158dup XP_005266480.1:p.Glu1054ArgfsTer?
XM_005266424.3:c.3158dup XP_005266481.1:p.Glu1054ArgfsTer?
XM_005266427.2:c.3020dup XP_005266484.1:p.Glu1008ArgfsTer?
XM_005266428.1:c.3002dup XP_005266485.1:p.Glu1002ArgfsTer?
XM_005266430.3:c.3254dup XP_005266487.1:p.Glu1086ArgfsTer?
XM_005266431.2:c.3218dup XP_005266488.1:p.Glu1074ArgfsTer?
XM_005266432.2:c.2768dup XP_005266489.1:p.Glu924ArgfsTer?
XM_006719837.2:c.3158dup XP_006719900.1:p.Glu1054ArgfsTer?
XM_006719838.1:c.1070dup XP_006719901.1:p.Glu358ArgfsTer?
XM_006719839.1:c.887dup XP_006719902.1:p.Glu297ArgfsTer?
XM_011535117.1:c.3158dup XP_011533419.1:p.Glu1054ArgfsTer?
XM_011535118.1:c.3119dup XP_011533420.1:p.Glu1041ArgfsTer?
XM_011535119.1:c.3071dup XP_011533421.1:p.Glu1025ArgfsTer?
XM_011535120.1:c.2840dup XP_011533422.1:p.Glu948ArgfsTer?
XM_011535121.1:c.2741dup XP_011533423.1:p.Glu915ArgfsTer?
XM_011535122.1:c.1922dup XP_011533424.1:p.Glu642ArgfsTer?
XR_941601.1:n.3473dup
XR_941602.1:n.3473dup
XR_941603.1:n.3473dup
XR_941604.1:n.3473dup
NM_001330578.1:c.3020dup NP_001317507.1:p.Glu1008ArgfsTer?
NM_001330579.1:c.3002dup NP_001317508.1:p.Glu1002ArgfsTer?
XM_005266424.4:c.3158dup XP_005266481.1:p.Glu1054ArgfsTer?
XM_005266430.4:c.3254dup XP_005266487.1:p.Glu1086ArgfsTer?
XM_005266431.4:c.3218dup XP_005266488.1:p.Glu1074ArgfsTer?
XM_006719837.3:c.3158dup XP_006719900.1:p.Glu1054ArgfsTer?
XM_011535117.3:c.3158dup XP_011533419.1:p.Glu1054ArgfsTer?
XM_017020627.1:c.3158dup XP_016876116.1:p.Glu1054ArgfsTer?
NM_000053.4:c.3254dup MANE Select NP_000044.2:p.Glu1086ArgfsTer?
NM_001005918.3:c.2633dup NP_001005918.1:p.Glu879ArgfsTer?
NM_001330579.2:c.3002dup NP_001317508.1:p.Glu1002ArgfsTer?
NM_001243182.2:c.2921dup NP_001230111.1:p.Glu975ArgfsTer?
NM_001330578.2:c.3020dup NP_001317507.1:p.Glu1008ArgfsTer?