Canonical Allele Identifier: CA2623116470
Gene: ATP7B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944270del , CM000675.2:g.51944270del GRCh38
NC_000013.10:g.52518406del , CM000675.1:g.52518406del GRCh37
NC_000013.9:g.51416407del NCBI36
NG_008806.1:g.72226del

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1715del ENSP00000489512.2:n.*894-1715del
ENST00000673864.2:c.*1827del ENSP00000501045.2:n.*1827del
ENST00000674147.2:c.2462del ENSP00000500964.2:p.Lys821ArgfsTer?
ENST00000242839.10:c.3083del MANE Select ENSP00000242839.5:p.Lys1028ArgfsTer?
ENST00000344297.9:c.2462del ENSP00000342559.5:p.Lys821ArgfsTer?
ENST00000400366.6:c.2750del ENSP00000383217.3:p.Lys917ArgfsTer?
ENST00000448424.7:c.2831del ENSP00000416738.3:p.Lys944ArgfsTer?
ENST00000673772.1:c.2849del ENSP00000501168.1:p.Lys950ArgfsTer?
ENST00000673867.1:n.3222del
ENST00000674126.1:n.3446del
ENST00000674147.1:c.2018del ENSP00000500964.1:p.Lys673ArgfsTer?
ENST00000242839.8:c.3083del ENSP00000242839.4:p.Lys1028ArgfsTer?
ENST00000344297.8:c.2462del ENSP00000342559.5:p.Lys821ArgfsTer?
ENST00000400366.5:c.2750del ENSP00000383217.3:p.Lys917ArgfsTer?
ENST00000400370.8:c.1793del ENSP00000383221.3:p.Lys598ArgfsTer?
ENST00000418097.7:c.2888del ENSP00000393343.2:p.Lys963ArgfsTer?
ENST00000448424.6:c.2849del ENSP00000416738.2:p.Lys950ArgfsTer?
ENST00000466629.1:n.303del
ENST00000634296.1:c.1022-1715del
ENST00000634308.1:c.*184del ENSP00000489234.1:n.*184del
ENST00000634620.1:n.3827del
ENST00000634810.1:n.2428del
ENST00000634844.1:c.2939del ENSP00000489398.1:p.Lys980ArgfsTer?
ENST00000635406.1:n.429del
NM_000053.3:c.3083del NP_000044.2:p.Lys1028ArgfsTer?
NM_001005918.2:c.2462del NP_001005918.1:p.Lys821ArgfsTer?
NM_001243182.1:c.2750del NP_001230111.1:p.Lys917ArgfsTer?
XM_005266423.2:c.2987del XP_005266480.1:p.Lys996ArgfsTer?
XM_005266424.3:c.2987del XP_005266481.1:p.Lys996ArgfsTer?
XM_005266427.2:c.2849del XP_005266484.1:p.Lys950ArgfsTer?
XM_005266428.1:c.2831del XP_005266485.1:p.Lys944ArgfsTer?
XM_005266430.3:c.3083del XP_005266487.1:p.Lys1028ArgfsTer?
XM_005266431.2:c.3047del XP_005266488.1:p.Lys1016ArgfsTer?
XM_005266432.2:c.2597del XP_005266489.1:p.Lys866ArgfsTer?
XM_006719837.2:c.2987del XP_006719900.1:p.Lys996ArgfsTer?
XM_006719838.1:c.899del XP_006719901.1:p.Lys300ArgfsTer?
XM_006719839.1:c.877-1715del XP_006719902.1:n.877-1715del
XM_011535117.1:c.2987del XP_011533419.1:p.Lys996ArgfsTer?
XM_011535118.1:c.2948del XP_011533420.1:p.Lys983ArgfsTer?
XM_011535119.1:c.3061-1715del XP_011533421.1:n.3061-1715del
XM_011535120.1:c.2669del XP_011533422.1:p.Lys890ArgfsTer?
XM_011535121.1:c.2731-1715del XP_011533423.1:n.2731-1715del
XM_011535122.1:c.1751del XP_011533424.1:p.Lys584ArgfsTer?
XR_941601.1:n.3302del
XR_941602.1:n.3302del
XR_941603.1:n.3302del
XR_941604.1:n.3302del
NM_001330578.1:c.2849del NP_001317507.1:p.Lys950ArgfsTer?
NM_001330579.1:c.2831del NP_001317508.1:p.Lys944ArgfsTer?
XM_005266424.4:c.2987del XP_005266481.1:p.Lys996ArgfsTer?
XM_005266430.4:c.3083del XP_005266487.1:p.Lys1028ArgfsTer?
XM_005266431.4:c.3047del XP_005266488.1:p.Lys1016ArgfsTer?
XM_006719837.3:c.2987del XP_006719900.1:p.Lys996ArgfsTer?
XM_011535117.3:c.2987del XP_011533419.1:p.Lys996ArgfsTer?
XM_017020627.1:c.2987del XP_016876116.1:p.Lys996ArgfsTer?
NM_000053.4:c.3083del MANE Select NP_000044.2:p.Lys1028ArgfsTer?
NM_001005918.3:c.2462del NP_001005918.1:p.Lys821ArgfsTer?
NM_001330579.2:c.2831del NP_001317508.1:p.Lys944ArgfsTer?
NM_001243182.2:c.2750del NP_001230111.1:p.Lys917ArgfsTer?
NM_001330578.2:c.2849del NP_001317507.1:p.Lys950ArgfsTer?