Canonical Allele Identifier: CA16619814
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 422866
ClinVar RCV Id: RCV000479903
dbSNP Id: rs1064796054

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946443del , CM000675.2:g.51946443del GRCh38
NC_000013.10:g.52520579del , CM000675.1:g.52520579del GRCh37
NC_000013.9:g.51418580del NCBI36
NG_008806.1:g.70052del

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*734del ENSP00000489512.2:n.*734del
ENST00000673864.2:c.*1645del ENSP00000501045.2:n.*1645del
ENST00000674147.2:c.2280del ENSP00000500964.2:p.Ile761SerfsTer?
ENST00000242839.10:c.2901del MANE Select ENSP00000242839.5:p.Ile968SerfsTer?
ENST00000344297.9:c.2280del ENSP00000342559.5:p.Ile761SerfsTer?
ENST00000400366.6:c.2568del ENSP00000383217.3:p.Ile857SerfsTer?
ENST00000448424.7:c.2649del ENSP00000416738.3:p.Ile884SerfsTer?
ENST00000673772.1:c.2667del ENSP00000501168.1:p.Ile890SerfsTer?
ENST00000673867.1:n.1048del
ENST00000674126.1:n.3264del
ENST00000674147.1:c.1836del ENSP00000500964.1:p.Ile613SerfsTer?
ENST00000242839.8:c.2901del ENSP00000242839.4:p.Ile968SerfsTer?
ENST00000344297.8:c.2280del ENSP00000342559.5:p.Ile761SerfsTer?
ENST00000400366.5:c.2568del ENSP00000383217.3:p.Ile857SerfsTer?
ENST00000400370.8:c.1611del ENSP00000383221.3:p.Ile538SerfsTer?
ENST00000418097.7:c.2866-2152del ENSP00000393343.2:n.2866-2152del
ENST00000448424.6:c.2667del ENSP00000416738.2:p.Ile890SerfsTer?
ENST00000466629.1:n.121del
ENST00000634296.1:c.862del
ENST00000634308.1:c.*2del ENSP00000489234.1:n.*2del
ENST00000634620.1:n.3645del
ENST00000634810.1:n.2246del
ENST00000634844.1:c.2757del ENSP00000489398.1:p.Ile920SerfsTer?
ENST00000635406.1:n.247del
NM_000053.3:c.2901del NP_000044.2:p.Ile968SerfsTer?
NM_001005918.2:c.2280del NP_001005918.1:p.Ile761SerfsTer?
NM_001243182.1:c.2568del NP_001230111.1:p.Ile857SerfsTer?
XM_005266423.2:c.2805del XP_005266480.1:p.Ile936SerfsTer?
XM_005266424.3:c.2805del XP_005266481.1:p.Ile936SerfsTer?
XM_005266427.2:c.2667del XP_005266484.1:p.Ile890SerfsTer?
XM_005266428.1:c.2649del XP_005266485.1:p.Ile884SerfsTer?
XM_005266430.3:c.2901del XP_005266487.1:p.Ile968SerfsTer?
XM_005266431.2:c.2865del XP_005266488.1:p.Ile956SerfsTer?
XM_005266432.2:c.2415del XP_005266489.1:p.Ile806SerfsTer?
XM_006719837.2:c.2805del XP_006719900.1:p.Ile936SerfsTer?
XM_006719838.1:c.717del XP_006719901.1:p.Ile240SerfsTer?
XM_006719839.1:c.717del XP_006719902.1:p.Ile240SerfsTer?
XM_011535117.1:c.2805del XP_011533419.1:p.Ile936SerfsTer?
XM_011535118.1:c.2766del XP_011533420.1:p.Ile923SerfsTer?
XM_011535119.1:c.2901del XP_011533421.1:p.Ile968SerfsTer?
XM_011535120.1:c.2487del XP_011533422.1:p.Ile830SerfsTer?
XM_011535121.1:c.2730+3564del XP_011533423.1:n.2730+3564del
XM_011535122.1:c.1569del XP_011533424.1:p.Ile524SerfsTer?
XR_941601.1:n.3120del
XR_941602.1:n.3120del
XR_941603.1:n.3120del
XR_941604.1:n.3120del
NM_001330578.1:c.2667del NP_001317507.1:p.Ile890SerfsTer?
NM_001330579.1:c.2649del NP_001317508.1:p.Ile884SerfsTer?
XM_005266424.4:c.2805del XP_005266481.1:p.Ile936SerfsTer?
XM_005266430.4:c.2901del XP_005266487.1:p.Ile968SerfsTer?
XM_005266431.4:c.2865del XP_005266488.1:p.Ile956SerfsTer?
XM_006719837.3:c.2805del XP_006719900.1:p.Ile936SerfsTer?
XM_011535117.3:c.2805del XP_011533419.1:p.Ile936SerfsTer?
XM_017020627.1:c.2805del XP_016876116.1:p.Ile936SerfsTer?
NM_000053.4:c.2901del MANE Select NP_000044.2:p.Ile968SerfsTer?
NM_001005918.3:c.2280del NP_001005918.1:p.Ile761SerfsTer?
NM_001330579.2:c.2649del NP_001317508.1:p.Ile884SerfsTer?
NM_001243182.2:c.2568del NP_001230111.1:p.Ile857SerfsTer?
NM_001330578.2:c.2667del NP_001317507.1:p.Ile890SerfsTer?