Canonical Allele Identifier: CA610425798
Gene: ATP7B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944276_51944277insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGG , CM000675.2:g.51944276_51944277insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGG GRCh38
NC_000013.10:g.52518412_52518413insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGG , CM000675.1:g.52518412_52518413insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGG GRCh37
NC_000013.9:g.51416413_51416414insGGCAATCGTGCGCACCTTTGCCAATGTCTCCATATAGTTAGAGCCCTTAATGAGCACACCCTTTCGCGATGCTCCACCGATGCCTCCAAAGAAAGTGAGAGGCACGGAGATAACGAGAGCACAAGGG NCBI36
NG_008806.1:g.72218_72219insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1723_*894-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000489512.2:n.*894-1723_*894-1722insCCCTTGTGCTCTCGTTATC...
ENST00000673864.2:c.*1819_*1820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000501045.2:n.*1819_*1820insCCCTTGTGCTCTCGTTATCTCCGTGCC...
ENST00000674147.2:c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000500964.2:p.Phe819ProfsTer27
ENST00000242839.10:c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC MANE Select ENSP00000242839.5:p.Phe1026ProfsTer27
ENST00000344297.9:c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000342559.5:p.Phe819ProfsTer27
ENST00000400366.6:c.2742_2743insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000383217.3:p.Phe915ProfsTer27
ENST00000448424.7:c.2823_2824insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000416738.3:p.Phe942ProfsTer27
ENST00000673772.1:c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000501168.1:p.Phe948ProfsTer27
ENST00000673867.1:n.3214_3215insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
ENST00000674126.1:n.3438_3439insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
ENST00000674147.1:c.2010_2011insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000500964.1:p.Phe671ProfsTer27
ENST00000242839.8:c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000242839.4:p.Phe1026ProfsTer27
ENST00000344297.8:c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000342559.5:p.Phe819ProfsTer27
ENST00000400366.5:c.2742_2743insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000383217.3:p.Phe915ProfsTer27
ENST00000400370.8:c.1785_1786insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000383221.3:p.Phe596ProfsTer27
ENST00000418097.7:c.2880_2881insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000393343.2:p.Phe961ProfsTer27
ENST00000448424.6:c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000416738.2:p.Phe948ProfsTer27
ENST00000466629.1:n.295_296insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
ENST00000634296.1:c.1022-1723_1022-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
ENST00000634308.1:c.*176_*177insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000489234.1:n.*176_*177insCCCTTGTGCTCTCGTTATCTCCGTGCCTC...
ENST00000634620.1:n.3819_3820insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
ENST00000634810.1:n.2420_2421insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
ENST00000634844.1:c.2931_2932insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC ENSP00000489398.1:p.Phe978ProfsTer27
ENST00000635406.1:n.421_422insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
NM_000053.3:c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_000044.2:p.Phe1026ProfsTer27
NM_001005918.2:c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001005918.1:p.Phe819ProfsTer27
NM_001243182.1:c.2742_2743insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001230111.1:p.Phe915ProfsTer27
XM_005266423.2:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266480.1:p.Phe994ProfsTer27
XM_005266424.3:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266481.1:p.Phe994ProfsTer27
XM_005266427.2:c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266484.1:p.Phe948ProfsTer27
XM_005266428.1:c.2823_2824insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266485.1:p.Phe942ProfsTer27
XM_005266430.3:c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266487.1:p.Phe1026ProfsTer27
XM_005266431.2:c.3039_3040insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266488.1:p.Phe1014ProfsTer27
XM_005266432.2:c.2589_2590insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266489.1:p.Phe864ProfsTer27
XM_006719837.2:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_006719900.1:p.Phe994ProfsTer27
XM_006719838.1:c.891_892insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_006719901.1:p.Phe298ProfsTer27
XM_006719839.1:c.877-1723_877-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_006719902.1:n.877-1723_877-1722insCCCTTGTGCTCTCGTTATCTCCGT...
XM_011535117.1:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533419.1:p.Phe994ProfsTer27
XM_011535118.1:c.2940_2941insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533420.1:p.Phe981ProfsTer27
XM_011535119.1:c.3061-1723_3061-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533421.1:n.3061-1723_3061-1722insCCCTTGTGCTCTCGTTATCTCC...
XM_011535120.1:c.2661_2662insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533422.1:p.Phe888ProfsTer27
XM_011535121.1:c.2731-1723_2731-1722insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533423.1:n.2731-1723_2731-1722insCCCTTGTGCTCTCGTTATCTCC...
XM_011535122.1:c.1743_1744insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533424.1:p.Phe582ProfsTer27
XR_941601.1:n.3294_3295insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
XR_941602.1:n.3294_3295insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
XR_941603.1:n.3294_3295insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
XR_941604.1:n.3294_3295insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC
NM_001330578.1:c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001317507.1:p.Phe948ProfsTer27
NM_001330579.1:c.2823_2824insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001317508.1:p.Phe942ProfsTer27
XM_005266424.4:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266481.1:p.Phe994ProfsTer27
XM_005266430.4:c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266487.1:p.Phe1026ProfsTer27
XM_005266431.4:c.3039_3040insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_005266488.1:p.Phe1014ProfsTer27
XM_006719837.3:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_006719900.1:p.Phe994ProfsTer27
XM_011535117.3:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_011533419.1:p.Phe994ProfsTer27
XM_017020627.1:c.2979_2980insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC XP_016876116.1:p.Phe994ProfsTer27
NM_000053.4:c.3075_3076insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC MANE Select NP_000044.2:p.Phe1026ProfsTer27
NM_001005918.3:c.2454_2455insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001005918.1:p.Phe819ProfsTer27
NM_001330579.2:c.2823_2824insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001317508.1:p.Phe942ProfsTer27
NM_001243182.2:c.2742_2743insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001230111.1:p.Phe915ProfsTer27
NM_001330578.2:c.2841_2842insCCCTTGTGCTCTCGTTATCTCCGTGCCTCTCACTTTCTTTGGAGGCATCGGTGGAGCATCGCGAAAGGGTGTGCTCATTAAGGGCTCTAACTATATGGAGACATTGGCAAAGGTGCGCACGATTGCC NP_001317507.1:p.Phe948ProfsTer27