Canonical Allele Identifier: CA2695218766
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946367dup , CM000675.2:g.51946367dup GRCh38
NC_000013.10:g.52520503dup , CM000675.1:g.52520503dup GRCh37
NC_000013.9:g.51418504dup NCBI36
NG_008806.1:g.70128dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*810dup ENSP00000489512.2:n.*810dup
ENST00000673864.2:c.*1721dup ENSP00000501045.2:n.*1721dup
ENST00000674147.2:c.2356dup ENSP00000500964.2:p.Thr786AsnfsTer?
ENST00000242839.10:c.2977dup MANE Select ENSP00000242839.5:p.Thr993AsnfsTer?
ENST00000344297.9:c.2356dup ENSP00000342559.5:p.Thr786AsnfsTer?
ENST00000400366.6:c.2644dup ENSP00000383217.3:p.Thr882AsnfsTer?
ENST00000448424.7:c.2725dup ENSP00000416738.3:p.Thr909AsnfsTer?
ENST00000673772.1:c.2743dup ENSP00000501168.1:p.Thr915AsnfsTer?
ENST00000673867.1:n.1124dup
ENST00000674126.1:n.3340dup
ENST00000674147.1:c.1912dup ENSP00000500964.1:p.Thr638AsnfsTer?
ENST00000242839.8:c.2977dup ENSP00000242839.4:p.Thr993AsnfsTer?
ENST00000344297.8:c.2356dup ENSP00000342559.5:p.Thr786AsnfsTer?
ENST00000400366.5:c.2644dup ENSP00000383217.3:p.Thr882AsnfsTer?
ENST00000400370.8:c.1687dup ENSP00000383221.3:p.Thr563AsnfsTer?
ENST00000418097.7:c.2866-2076dup ENSP00000393343.2:n.2866-2076dup
ENST00000448424.6:c.2743dup ENSP00000416738.2:p.Thr915AsnfsTer?
ENST00000466629.1:n.197dup
ENST00000634296.1:c.938dup
ENST00000634308.1:c.*78dup ENSP00000489234.1:n.*78dup
ENST00000634620.1:n.3721dup
ENST00000634810.1:n.2322dup
ENST00000634844.1:c.2833dup ENSP00000489398.1:p.Thr945AsnfsTer?
ENST00000635406.1:n.323dup
NM_000053.3:c.2977dup NP_000044.2:p.Thr993AsnfsTer?
NM_001005918.2:c.2356dup NP_001005918.1:p.Thr786AsnfsTer?
NM_001243182.1:c.2644dup NP_001230111.1:p.Thr882AsnfsTer?
XM_005266423.2:c.2881dup XP_005266480.1:p.Thr961AsnfsTer?
XM_005266424.3:c.2881dup XP_005266481.1:p.Thr961AsnfsTer?
XM_005266427.2:c.2743dup XP_005266484.1:p.Thr915AsnfsTer?
XM_005266428.1:c.2725dup XP_005266485.1:p.Thr909AsnfsTer?
XM_005266430.3:c.2977dup XP_005266487.1:p.Thr993AsnfsTer?
XM_005266431.2:c.2941dup XP_005266488.1:p.Thr981AsnfsTer?
XM_005266432.2:c.2491dup XP_005266489.1:p.Thr831AsnfsTer?
XM_006719837.2:c.2881dup XP_006719900.1:p.Thr961AsnfsTer?
XM_006719838.1:c.793dup XP_006719901.1:p.Thr265AsnfsTer?
XM_006719839.1:c.793dup XP_006719902.1:p.Thr265AsnfsTer?
XM_011535117.1:c.2881dup XP_011533419.1:p.Thr961AsnfsTer?
XM_011535118.1:c.2842dup XP_011533420.1:p.Thr948AsnfsTer?
XM_011535119.1:c.2977dup XP_011533421.1:p.Thr993AsnfsTer?
XM_011535120.1:c.2563dup XP_011533422.1:p.Thr855AsnfsTer?
XM_011535121.1:c.2730+3640dup XP_011533423.1:n.2730+3640dup
XM_011535122.1:c.1645dup XP_011533424.1:p.Thr549AsnfsTer?
XR_941601.1:n.3196dup
XR_941602.1:n.3196dup
XR_941603.1:n.3196dup
XR_941604.1:n.3196dup
NM_001330578.1:c.2743dup NP_001317507.1:p.Thr915AsnfsTer?
NM_001330579.1:c.2725dup NP_001317508.1:p.Thr909AsnfsTer?
XM_005266424.4:c.2881dup XP_005266481.1:p.Thr961AsnfsTer?
XM_005266430.4:c.2977dup XP_005266487.1:p.Thr993AsnfsTer?
XM_005266431.4:c.2941dup XP_005266488.1:p.Thr981AsnfsTer?
XM_006719837.3:c.2881dup XP_006719900.1:p.Thr961AsnfsTer?
XM_011535117.3:c.2881dup XP_011533419.1:p.Thr961AsnfsTer?
XM_017020627.1:c.2881dup XP_016876116.1:p.Thr961AsnfsTer?
NM_000053.4:c.2977dup MANE Select NP_000044.2:p.Thr993AsnfsTer?
NM_001005918.3:c.2356dup NP_001005918.1:p.Thr786AsnfsTer?
NM_001330579.2:c.2725dup NP_001317508.1:p.Thr909AsnfsTer?
NM_001243182.2:c.2644dup NP_001230111.1:p.Thr882AsnfsTer?
NM_001330578.2:c.2743dup NP_001317507.1:p.Thr915AsnfsTer?