Canonical Allele Identifier: CA2840695588
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946395dup , CM000675.2:g.51946395dup GRCh38
NC_000013.10:g.52520531dup , CM000675.1:g.52520531dup GRCh37
NC_000013.9:g.51418532dup NCBI36
NG_008806.1:g.70103dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*785dup ENSP00000489512.2:n.*785dup
ENST00000673864.2:c.*1696dup ENSP00000501045.2:n.*1696dup
ENST00000674147.2:c.2331dup ENSP00000500964.2:p.Cys778LeufsTer?
ENST00000242839.10:c.2952dup MANE Select ENSP00000242839.5:p.Cys985LeufsTer?
ENST00000344297.9:c.2331dup ENSP00000342559.5:p.Cys778LeufsTer?
ENST00000400366.6:c.2619dup ENSP00000383217.3:p.Cys874LeufsTer?
ENST00000448424.7:c.2700dup ENSP00000416738.3:p.Cys901LeufsTer?
ENST00000673772.1:c.2718dup ENSP00000501168.1:p.Cys907LeufsTer?
ENST00000673867.1:n.1099dup
ENST00000674126.1:n.3315dup
ENST00000674147.1:c.1887dup ENSP00000500964.1:p.Cys630LeufsTer?
ENST00000242839.8:c.2952dup ENSP00000242839.4:p.Cys985LeufsTer?
ENST00000344297.8:c.2331dup ENSP00000342559.5:p.Cys778LeufsTer?
ENST00000400366.5:c.2619dup ENSP00000383217.3:p.Cys874LeufsTer?
ENST00000400370.8:c.1662dup ENSP00000383221.3:p.Cys555LeufsTer?
ENST00000418097.7:c.2866-2101dup ENSP00000393343.2:n.2866-2101dup
ENST00000448424.6:c.2718dup ENSP00000416738.2:p.Cys907LeufsTer?
ENST00000466629.1:n.172dup
ENST00000634296.1:c.913dup
ENST00000634308.1:c.*53dup ENSP00000489234.1:n.*53dup
ENST00000634620.1:n.3696dup
ENST00000634810.1:n.2297dup
ENST00000634844.1:c.2808dup ENSP00000489398.1:p.Cys937LeufsTer?
ENST00000635406.1:n.298dup
NM_000053.3:c.2952dup NP_000044.2:p.Cys985LeufsTer?
NM_001005918.2:c.2331dup NP_001005918.1:p.Cys778LeufsTer?
NM_001243182.1:c.2619dup NP_001230111.1:p.Cys874LeufsTer?
XM_005266423.2:c.2856dup XP_005266480.1:p.Cys953LeufsTer?
XM_005266424.3:c.2856dup XP_005266481.1:p.Cys953LeufsTer?
XM_005266427.2:c.2718dup XP_005266484.1:p.Cys907LeufsTer?
XM_005266428.1:c.2700dup XP_005266485.1:p.Cys901LeufsTer?
XM_005266430.3:c.2952dup XP_005266487.1:p.Cys985LeufsTer?
XM_005266431.2:c.2916dup XP_005266488.1:p.Cys973LeufsTer?
XM_005266432.2:c.2466dup XP_005266489.1:p.Cys823LeufsTer?
XM_006719837.2:c.2856dup XP_006719900.1:p.Cys953LeufsTer?
XM_006719838.1:c.768dup XP_006719901.1:p.Cys257LeufsTer?
XM_006719839.1:c.768dup XP_006719902.1:p.Cys257LeufsTer?
XM_011535117.1:c.2856dup XP_011533419.1:p.Cys953LeufsTer?
XM_011535118.1:c.2817dup XP_011533420.1:p.Cys940LeufsTer?
XM_011535119.1:c.2952dup XP_011533421.1:p.Cys985LeufsTer?
XM_011535120.1:c.2538dup XP_011533422.1:p.Cys847LeufsTer?
XM_011535121.1:c.2730+3615dup XP_011533423.1:n.2730+3615dup
XM_011535122.1:c.1620dup XP_011533424.1:p.Cys541LeufsTer?
XR_941601.1:n.3171dup
XR_941602.1:n.3171dup
XR_941603.1:n.3171dup
XR_941604.1:n.3171dup
NM_001330578.1:c.2718dup NP_001317507.1:p.Cys907LeufsTer?
NM_001330579.1:c.2700dup NP_001317508.1:p.Cys901LeufsTer?
XM_005266424.4:c.2856dup XP_005266481.1:p.Cys953LeufsTer?
XM_005266430.4:c.2952dup XP_005266487.1:p.Cys985LeufsTer?
XM_005266431.4:c.2916dup XP_005266488.1:p.Cys973LeufsTer?
XM_006719837.3:c.2856dup XP_006719900.1:p.Cys953LeufsTer?
XM_011535117.3:c.2856dup XP_011533419.1:p.Cys953LeufsTer?
XM_017020627.1:c.2856dup XP_016876116.1:p.Cys953LeufsTer?
NM_000053.4:c.2952dup MANE Select NP_000044.2:p.Cys985LeufsTer?
NM_001005918.3:c.2331dup NP_001005918.1:p.Cys778LeufsTer?
NM_001330579.2:c.2700dup NP_001317508.1:p.Cys901LeufsTer?
NM_001243182.2:c.2619dup NP_001230111.1:p.Cys874LeufsTer?
NM_001330578.2:c.2718dup NP_001317507.1:p.Cys907LeufsTer?