Canonical Allele Identifier: CA2695218752
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944265dup , CM000675.2:g.51944265dup GRCh38
NC_000013.10:g.52518401dup , CM000675.1:g.52518401dup GRCh37
NC_000013.9:g.51416402dup NCBI36
NG_008806.1:g.72230dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1711dup ENSP00000489512.2:n.*894-1711dup
ENST00000673864.2:c.*1831dup ENSP00000501045.2:n.*1831dup
ENST00000674147.2:c.2466dup ENSP00000500964.2:p.Gly823TrpfsTer?
ENST00000242839.10:c.3087dup MANE Select ENSP00000242839.5:p.Gly1030TrpfsTer?
ENST00000344297.9:c.2466dup ENSP00000342559.5:p.Gly823TrpfsTer?
ENST00000400366.6:c.2754dup ENSP00000383217.3:p.Gly919TrpfsTer?
ENST00000448424.7:c.2835dup ENSP00000416738.3:p.Gly946TrpfsTer?
ENST00000673772.1:c.2853dup ENSP00000501168.1:p.Gly952TrpfsTer?
ENST00000673867.1:n.3226dup
ENST00000674126.1:n.3450dup
ENST00000674147.1:c.2022dup ENSP00000500964.1:p.Gly675TrpfsTer?
ENST00000242839.8:c.3087dup ENSP00000242839.4:p.Gly1030TrpfsTer?
ENST00000344297.8:c.2466dup ENSP00000342559.5:p.Gly823TrpfsTer?
ENST00000400366.5:c.2754dup ENSP00000383217.3:p.Gly919TrpfsTer?
ENST00000400370.8:c.1797dup ENSP00000383221.3:p.Gly600TrpfsTer?
ENST00000418097.7:c.2892dup ENSP00000393343.2:p.Gly965TrpfsTer?
ENST00000448424.6:c.2853dup ENSP00000416738.2:p.Gly952TrpfsTer?
ENST00000466629.1:n.307dup
ENST00000634296.1:c.1022-1711dup
ENST00000634308.1:c.*188dup ENSP00000489234.1:n.*188dup
ENST00000634620.1:n.3831dup
ENST00000634810.1:n.2432dup
ENST00000634844.1:c.2943dup ENSP00000489398.1:p.Gly982TrpfsTer?
ENST00000635406.1:n.433dup
NM_000053.3:c.3087dup NP_000044.2:p.Gly1030TrpfsTer?
NM_001005918.2:c.2466dup NP_001005918.1:p.Gly823TrpfsTer?
NM_001243182.1:c.2754dup NP_001230111.1:p.Gly919TrpfsTer?
XM_005266423.2:c.2991dup XP_005266480.1:p.Gly998TrpfsTer?
XM_005266424.3:c.2991dup XP_005266481.1:p.Gly998TrpfsTer?
XM_005266427.2:c.2853dup XP_005266484.1:p.Gly952TrpfsTer?
XM_005266428.1:c.2835dup XP_005266485.1:p.Gly946TrpfsTer?
XM_005266430.3:c.3087dup XP_005266487.1:p.Gly1030TrpfsTer?
XM_005266431.2:c.3051dup XP_005266488.1:p.Gly1018TrpfsTer?
XM_005266432.2:c.2601dup XP_005266489.1:p.Gly868TrpfsTer?
XM_006719837.2:c.2991dup XP_006719900.1:p.Gly998TrpfsTer?
XM_006719838.1:c.903dup XP_006719901.1:p.Gly302TrpfsTer?
XM_006719839.1:c.877-1711dup XP_006719902.1:n.877-1711dup
XM_011535117.1:c.2991dup XP_011533419.1:p.Gly998TrpfsTer?
XM_011535118.1:c.2952dup XP_011533420.1:p.Gly985TrpfsTer?
XM_011535119.1:c.3061-1711dup XP_011533421.1:n.3061-1711dup
XM_011535120.1:c.2673dup XP_011533422.1:p.Gly892TrpfsTer?
XM_011535121.1:c.2731-1711dup XP_011533423.1:n.2731-1711dup
XM_011535122.1:c.1755dup XP_011533424.1:p.Gly586TrpfsTer?
XR_941601.1:n.3306dup
XR_941602.1:n.3306dup
XR_941603.1:n.3306dup
XR_941604.1:n.3306dup
NM_001330578.1:c.2853dup NP_001317507.1:p.Gly952TrpfsTer?
NM_001330579.1:c.2835dup NP_001317508.1:p.Gly946TrpfsTer?
XM_005266424.4:c.2991dup XP_005266481.1:p.Gly998TrpfsTer?
XM_005266430.4:c.3087dup XP_005266487.1:p.Gly1030TrpfsTer?
XM_005266431.4:c.3051dup XP_005266488.1:p.Gly1018TrpfsTer?
XM_006719837.3:c.2991dup XP_006719900.1:p.Gly998TrpfsTer?
XM_011535117.3:c.2991dup XP_011533419.1:p.Gly998TrpfsTer?
XM_017020627.1:c.2991dup XP_016876116.1:p.Gly998TrpfsTer?
NM_000053.4:c.3087dup MANE Select NP_000044.2:p.Gly1030TrpfsTer?
NM_001005918.3:c.2466dup NP_001005918.1:p.Gly823TrpfsTer?
NM_001330579.2:c.2835dup NP_001317508.1:p.Gly946TrpfsTer?
NM_001243182.2:c.2754dup NP_001230111.1:p.Gly919TrpfsTer?
NM_001330578.2:c.2853dup NP_001317507.1:p.Gly952TrpfsTer?