Canonical Allele Identifier: CA2623117518
Gene: ATP7B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946436del , CM000675.2:g.51946436del GRCh38
NC_000013.10:g.52520572del , CM000675.1:g.52520572del GRCh37
NC_000013.9:g.51418573del NCBI36
NG_008806.1:g.70061del

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*743del ENSP00000489512.2:n.*743del
ENST00000673864.2:c.*1654del ENSP00000501045.2:n.*1654del
ENST00000674147.2:c.2289del ENSP00000500964.2:p.Phe763LeufsTer?
ENST00000242839.10:c.2910del MANE Select ENSP00000242839.5:p.Phe970LeufsTer?
ENST00000344297.9:c.2289del ENSP00000342559.5:p.Phe763LeufsTer?
ENST00000400366.6:c.2577del ENSP00000383217.3:p.Phe859LeufsTer?
ENST00000448424.7:c.2658del ENSP00000416738.3:p.Phe886LeufsTer?
ENST00000673772.1:c.2676del ENSP00000501168.1:p.Phe892LeufsTer?
ENST00000673867.1:n.1057del
ENST00000674126.1:n.3273del
ENST00000674147.1:c.1845del ENSP00000500964.1:p.Phe615LeufsTer?
ENST00000242839.8:c.2910del ENSP00000242839.4:p.Phe970LeufsTer?
ENST00000344297.8:c.2289del ENSP00000342559.5:p.Phe763LeufsTer?
ENST00000400366.5:c.2577del ENSP00000383217.3:p.Phe859LeufsTer?
ENST00000400370.8:c.1620del ENSP00000383221.3:p.Phe540LeufsTer?
ENST00000418097.7:c.2866-2143del ENSP00000393343.2:n.2866-2143del
ENST00000448424.6:c.2676del ENSP00000416738.2:p.Phe892LeufsTer?
ENST00000466629.1:n.130del
ENST00000634296.1:c.871del
ENST00000634308.1:c.*11del ENSP00000489234.1:n.*11del
ENST00000634620.1:n.3654del
ENST00000634810.1:n.2255del
ENST00000634844.1:c.2766del ENSP00000489398.1:p.Phe922LeufsTer?
ENST00000635406.1:n.256del
NM_000053.3:c.2910del NP_000044.2:p.Phe970LeufsTer?
NM_001005918.2:c.2289del NP_001005918.1:p.Phe763LeufsTer?
NM_001243182.1:c.2577del NP_001230111.1:p.Phe859LeufsTer?
XM_005266423.2:c.2814del XP_005266480.1:p.Phe938LeufsTer?
XM_005266424.3:c.2814del XP_005266481.1:p.Phe938LeufsTer?
XM_005266427.2:c.2676del XP_005266484.1:p.Phe892LeufsTer?
XM_005266428.1:c.2658del XP_005266485.1:p.Phe886LeufsTer?
XM_005266430.3:c.2910del XP_005266487.1:p.Phe970LeufsTer?
XM_005266431.2:c.2874del XP_005266488.1:p.Phe958LeufsTer?
XM_005266432.2:c.2424del XP_005266489.1:p.Phe808LeufsTer?
XM_006719837.2:c.2814del XP_006719900.1:p.Phe938LeufsTer?
XM_006719838.1:c.726del XP_006719901.1:p.Phe242LeufsTer?
XM_006719839.1:c.726del XP_006719902.1:p.Phe242LeufsTer?
XM_011535117.1:c.2814del XP_011533419.1:p.Phe938LeufsTer?
XM_011535118.1:c.2775del XP_011533420.1:p.Phe925LeufsTer?
XM_011535119.1:c.2910del XP_011533421.1:p.Phe970LeufsTer?
XM_011535120.1:c.2496del XP_011533422.1:p.Phe832LeufsTer?
XM_011535121.1:c.2730+3573del XP_011533423.1:n.2730+3573del
XM_011535122.1:c.1578del XP_011533424.1:p.Phe526LeufsTer?
XR_941601.1:n.3129del
XR_941602.1:n.3129del
XR_941603.1:n.3129del
XR_941604.1:n.3129del
NM_001330578.1:c.2676del NP_001317507.1:p.Phe892LeufsTer?
NM_001330579.1:c.2658del NP_001317508.1:p.Phe886LeufsTer?
XM_005266424.4:c.2814del XP_005266481.1:p.Phe938LeufsTer?
XM_005266430.4:c.2910del XP_005266487.1:p.Phe970LeufsTer?
XM_005266431.4:c.2874del XP_005266488.1:p.Phe958LeufsTer?
XM_006719837.3:c.2814del XP_006719900.1:p.Phe938LeufsTer?
XM_011535117.3:c.2814del XP_011533419.1:p.Phe938LeufsTer?
XM_017020627.1:c.2814del XP_016876116.1:p.Phe938LeufsTer?
NM_000053.4:c.2910del MANE Select NP_000044.2:p.Phe970LeufsTer?
NM_001005918.3:c.2289del NP_001005918.1:p.Phe763LeufsTer?
NM_001330579.2:c.2658del NP_001317508.1:p.Phe886LeufsTer?
NM_001243182.2:c.2577del NP_001230111.1:p.Phe859LeufsTer?
NM_001330578.2:c.2676del NP_001317507.1:p.Phe892LeufsTer?