Canonical Allele Identifier: CA916083359
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 835191
ClinVar RCV Id: RCV001036016
dbSNP Id: rs1958506321

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958509del , CM000675.2:g.51958509del GRCh38
NC_000013.10:g.52532645del , CM000675.1:g.52532645del GRCh37
NC_000013.9:g.51430646del NCBI36
NG_008806.1:g.57986del

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.1982del ENSP00000489512.2:p.Thr661LysfsTer?
ENST00000673864.2:c.*901del ENSP00000501045.2:n.*901del
ENST00000674147.2:c.1870-902del ENSP00000500964.2:n.1870-902del
ENST00000242839.10:c.2157del MANE Select ENSP00000242839.5:p.Tyr719Ter
ENST00000344297.9:c.1870-902del ENSP00000342559.5:n.1870-902del
ENST00000400366.6:c.1824del ENSP00000383217.3:p.Tyr608Ter
ENST00000448424.7:c.1905del ENSP00000416738.3:p.Tyr635Ter
ENST00000673772.1:c.2122-902del ENSP00000501168.1:n.2122-902del
ENST00000674147.1:c.1426-902del ENSP00000500964.1:n.1426-902del
ENST00000242839.8:c.2157del ENSP00000242839.4:p.Tyr719Ter
ENST00000344297.8:c.1870-902del ENSP00000342559.5:n.1870-902del
ENST00000400366.5:c.1824del ENSP00000383217.3:p.Tyr608Ter
ENST00000400370.8:c.1286-8348del ENSP00000383221.3:n.1286-8348del
ENST00000418097.7:c.2157del ENSP00000393343.2:p.Tyr719Ter
ENST00000448424.6:c.2122-902del ENSP00000416738.2:n.2122-902del
ENST00000482841.6:n.1700del
ENST00000634296.1:c.118del
ENST00000634308.1:c.2122-902del ENSP00000489234.1:n.2122-902del
ENST00000634620.1:n.2252del
ENST00000634810.1:n.1502del
ENST00000634844.1:c.2122-109del ENSP00000489398.1:n.2122-109del
ENST00000635406.1:n.212-12031del
NM_000053.3:c.2157del NP_000044.2:p.Tyr719Ter
NM_001005918.2:c.1870-902del NP_001005918.1:n.1870-902del
NM_001243182.1:c.1824del NP_001230111.1:p.Tyr608Ter
XM_005266423.2:c.2061del XP_005266480.1:p.Tyr687Ter
XM_005266424.3:c.2061del XP_005266481.1:p.Tyr687Ter
XM_005266427.2:c.2122-902del XP_005266484.1:n.2122-902del
XM_005266428.1:c.1905del XP_005266485.1:p.Tyr635Ter
XM_005266430.3:c.2157del XP_005266487.1:p.Tyr719Ter
XM_005266431.2:c.2121del XP_005266488.1:p.Tyr707Ter
XM_005266432.2:c.1870-902del XP_005266489.1:n.1870-902del
XM_006719837.2:c.2061del XP_006719900.1:p.Tyr687Ter
XM_006719838.1:c.-28del XP_006719901.1:n.-28del
XM_006719839.1:c.-28del XP_006719902.1:n.-28del
XM_011535117.1:c.2061del XP_011533419.1:p.Tyr687Ter
XM_011535118.1:c.2157del XP_011533420.1:p.Tyr719Ter
XM_011535119.1:c.2157del XP_011533421.1:p.Tyr719Ter
XM_011535120.1:c.1743del XP_011533422.1:p.Tyr581Ter
XM_011535121.1:c.2157del XP_011533423.1:p.Tyr719Ter
XM_011535122.1:c.825del XP_011533424.1:p.Tyr275Ter
XR_941601.1:n.2376del
XR_941602.1:n.2376del
XR_941603.1:n.2376del
XR_941604.1:n.2376del
NM_001330578.1:c.2122-902del NP_001317507.1:n.2122-902del
NM_001330579.1:c.1905del NP_001317508.1:p.Tyr635Ter
XM_005266424.4:c.2061del XP_005266481.1:p.Tyr687Ter
XM_005266430.4:c.2157del XP_005266487.1:p.Tyr719Ter
XM_005266431.4:c.2121del XP_005266488.1:p.Tyr707Ter
XM_006719837.3:c.2061del XP_006719900.1:p.Tyr687Ter
XM_011535117.3:c.2061del XP_011533419.1:p.Tyr687Ter
XM_017020627.1:c.2061del XP_016876116.1:p.Tyr687Ter
NM_000053.4:c.2157del MANE Select NP_000044.2:p.Tyr719Ter
NM_001005918.3:c.1870-902del NP_001005918.1:n.1870-902del
NM_001330579.2:c.1905del NP_001317508.1:p.Tyr635Ter
NM_001243182.2:c.1824del NP_001230111.1:p.Tyr608Ter
NM_001330578.2:c.2122-902del NP_001317507.1:n.2122-902del