Canonical Allele Identifier: CA2695218746
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937491del , CM000675.2:g.51937491del GRCh38
NC_000013.10:g.52511627del , CM000675.1:g.52511627del GRCh37
NC_000013.9:g.51409628del NCBI36
NG_008806.1:g.79004del

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*1538del ENSP00000489512.2:n.*1538del
ENST00000673864.2:c.*2632del ENSP00000501045.2:n.*2632del
ENST00000674147.2:c.3267del ENSP00000500964.2:p.Asp1089GlufsTer?
ENST00000242839.10:c.3888del MANE Select ENSP00000242839.5:p.Asp1296GlufsTer?
ENST00000344297.9:c.3267del ENSP00000342559.5:p.Asp1089GlufsTer?
ENST00000400366.6:c.3555del ENSP00000383217.3:p.Asp1185GlufsTer?
ENST00000448424.7:c.3636del ENSP00000416738.3:p.Asp1212GlufsTer?
ENST00000673696.1:n.1129del
ENST00000673772.1:c.3654del ENSP00000501168.1:p.Asp1218GlufsTer?
ENST00000673867.1:n.4027del
ENST00000673923.1:n.754del
ENST00000674147.1:c.2823del ENSP00000500964.1:p.Asp941GlufsTer?
ENST00000242839.8:c.3888del ENSP00000242839.4:p.Asp1296GlufsTer?
ENST00000344297.8:c.3267del ENSP00000342559.5:p.Asp1089GlufsTer?
ENST00000400366.5:c.3555del ENSP00000383217.3:p.Asp1185GlufsTer?
ENST00000400370.8:c.2598del ENSP00000383221.3:p.Asp866GlufsTer?
ENST00000418097.7:c.3693del ENSP00000393343.2:p.Asp1231GlufsTer?
ENST00000448424.6:c.3654del ENSP00000416738.2:p.Asp1218GlufsTer?
ENST00000634296.1:c.1666del
ENST00000634308.1:c.*989del ENSP00000489234.1:n.*989del
ENST00000634620.1:n.4632del
ENST00000634810.1:n.3233del
ENST00000634844.1:c.3744del ENSP00000489398.1:p.Asp1248GlufsTer?
NM_000053.3:c.3888del NP_000044.2:p.Asp1296GlufsTer?
NM_001005918.2:c.3267del NP_001005918.1:p.Asp1089GlufsTer?
NM_001243182.1:c.3555del NP_001230111.1:p.Asp1185GlufsTer?
XM_005266423.2:c.3792del XP_005266480.1:p.Asp1264GlufsTer?
XM_005266424.3:c.3792del XP_005266481.1:p.Asp1264GlufsTer?
XM_005266427.2:c.3654del XP_005266484.1:p.Asp1218GlufsTer?
XM_005266428.1:c.3636del XP_005266485.1:p.Asp1212GlufsTer?
XM_005266430.3:c.3888del XP_005266487.1:p.Asp1296GlufsTer?
XM_005266431.2:c.3852del XP_005266488.1:p.Asp1284GlufsTer?
XM_005266432.2:c.3402del XP_005266489.1:p.Asp1134GlufsTer?
XM_006719837.2:c.3792del XP_006719900.1:p.Asp1264GlufsTer?
XM_006719838.1:c.1704del XP_006719901.1:p.Asp568GlufsTer?
XM_006719839.1:c.1521del XP_006719902.1:p.Asp507GlufsTer?
XM_011535117.1:c.3792del XP_011533419.1:p.Asp1264GlufsTer?
XM_011535118.1:c.3753del XP_011533420.1:p.Asp1251GlufsTer?
XM_011535119.1:c.3705del XP_011533421.1:p.Asp1235GlufsTer?
XM_011535120.1:c.3474del XP_011533422.1:p.Asp1158GlufsTer?
XM_011535121.1:c.3375del XP_011533423.1:p.Asp1125GlufsTer?
XM_011535122.1:c.2556del XP_011533424.1:p.Asp852GlufsTer?
XR_941601.1:n.4107del
XR_941602.1:n.4107del
XR_941603.1:n.4107del
XR_941604.1:n.4107del
NM_001330578.1:c.3654del NP_001317507.1:p.Asp1218GlufsTer?
NM_001330579.1:c.3636del NP_001317508.1:p.Asp1212GlufsTer?
XM_005266424.4:c.3792del XP_005266481.1:p.Asp1264GlufsTer?
XM_005266430.4:c.3888del XP_005266487.1:p.Asp1296GlufsTer?
XM_005266431.4:c.3852del XP_005266488.1:p.Asp1284GlufsTer?
XM_006719837.3:c.3792del XP_006719900.1:p.Asp1264GlufsTer?
XM_011535117.3:c.3792del XP_011533419.1:p.Asp1264GlufsTer?
XM_017020627.1:c.3792del XP_016876116.1:p.Asp1264GlufsTer?
NM_000053.4:c.3888del MANE Select NP_000044.2:p.Asp1296GlufsTer?
NM_001005918.3:c.3267del NP_001005918.1:p.Asp1089GlufsTer?
NM_001330579.2:c.3636del NP_001317508.1:p.Asp1212GlufsTer?
NM_001243182.2:c.3555del NP_001230111.1:p.Asp1185GlufsTer?
NM_001330578.2:c.3654del NP_001317507.1:p.Asp1218GlufsTer?