Canonical Allele Identifier: CA16041664
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370749
ClinVar RCV Id: RCV000412326
dbSNP Id: rs1057516740

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937579del , CM000675.2:g.51937579del GRCh38
NC_000013.10:g.52511715del , CM000675.1:g.52511715del GRCh37
NC_000013.9:g.51409716del NCBI36
NG_008806.1:g.78916del

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.3800del VV NP_000044.2:p.Asp1267ValfsTer?
NM_001005918.2:c.3179del VV NP_001005918.1:p.Asp1060ValfsTer?
NM_001243182.1:c.3467del VV NP_001230111.1:p.Asp1156ValfsTer?
XM_005266423.2:c.3704del XP_005266480.1:p.Asp1235ValfsTer?
XM_005266424.3:c.3704del XP_005266481.1:p.Asp1235ValfsTer?
XM_005266427.2:c.3566del XP_005266484.1:p.Asp1189ValfsTer?
XM_005266428.1:c.3548del XP_005266485.1:p.Asp1183ValfsTer?
XM_005266430.3:c.3800del XP_005266487.1:p.Asp1267ValfsTer?
XM_005266431.2:c.3764del XP_005266488.1:p.Asp1255ValfsTer?
XM_005266432.2:c.3314del XP_005266489.1:p.Asp1105ValfsTer?
XM_006719837.2:c.3704del XP_006719900.1:p.Asp1235ValfsTer?
XM_006719838.1:c.1616del XP_006719901.1:p.Asp539ValfsTer?
XM_006719839.1:c.1433del XP_006719902.1:p.Asp478ValfsTer?
XM_011535117.1:c.3704del XP_011533419.1:p.Asp1235ValfsTer?
XM_011535118.1:c.3665del XP_011533420.1:p.Asp1222ValfsTer?
XM_011535119.1:c.3617del XP_011533421.1:p.Asp1206ValfsTer?
XM_011535120.1:c.3386del XP_011533422.1:p.Asp1129ValfsTer?
XM_011535121.1:c.3287del XP_011533423.1:p.Asp1096ValfsTer?
XM_011535122.1:c.2468del XP_011533424.1:p.Asp823ValfsTer?
XR_941601.1:n.4019del
XR_941602.1:n.4019del
XR_941603.1:n.4019del
XR_941604.1:n.4019del
NM_001330578.1:c.3566del VV NP_001317507.1:p.Asp1189ValfsTer?
NM_001330579.1:c.3548del VV NP_001317508.1:p.Asp1183ValfsTer?
XM_005266424.4:c.3704del XP_005266481.1:p.Asp1235ValfsTer?
XM_005266430.4:c.3800del XP_005266487.1:p.Asp1267ValfsTer?
XM_005266431.4:c.3764del XP_005266488.1:p.Asp1255ValfsTer?
XM_006719837.3:c.3704del XP_006719900.1:p.Asp1235ValfsTer?
XM_011535117.3:c.3704del XP_011533419.1:p.Asp1235ValfsTer?
XM_017020627.1:c.3704del XP_016876116.1:p.Asp1235ValfsTer?
ENST00000242839.8:c.3800del ENSP00000242839.4:p.Asp1267ValfsTer?
ENST00000344297.8:c.3179del ENSP00000342559.5:p.Asp1060ValfsTer?
ENST00000400366.5:c.3467del ENSP00000383217.3:p.Asp1156ValfsTer?
ENST00000400370.8:c.2510del ENSP00000383221.3:p.Asp837ValfsTer?
ENST00000418097.7:c.3605del ENSP00000393343.2:p.Asp1202ValfsTer?
ENST00000448424.6:c.3566del ENSP00000416738.2:p.Asp1189ValfsTer?
ENST00000634296.1:n.1578del
ENST00000634308.1:c.*901del ENSP00000489234.1:p.=
ENST00000634620.1:n.4544del
ENST00000634810.1:n.3145del
ENST00000634844.1:c.3656del ENSP00000489398.1:p.Asp1219ValfsTer?