Canonical Allele Identifier: CA16041673
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371013
ClinVar RCV Id: RCV000411545
dbSNP Id: rs1057516940

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51964922dup , CM000675.2:g.51964922dup GRCh38
NC_000013.10:g.52539058dup , CM000675.1:g.52539058dup GRCh37
NC_000013.9:g.51437059dup NCBI36
NG_008806.1:g.51574dup

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.1820dup VV NP_000044.2:p.Phe608ValfsTer2
NM_001005918.2:c.1820dup VV NP_001005918.1:p.Phe608ValfsTer2
NM_001243182.1:c.1487dup VV NP_001230111.1:p.Phe497ValfsTer2
XM_005266423.2:c.1724dup XP_005266480.1:p.Phe576ValfsTer2
XM_005266424.3:c.1724dup XP_005266481.1:p.Phe576ValfsTer2
XM_005266427.2:c.1820dup XP_005266484.1:p.Phe608ValfsTer2
XM_005266428.1:c.1820dup XP_005266485.1:p.Phe608ValfsTer2
XM_005266430.3:c.1820dup XP_005266487.1:p.Phe608ValfsTer2
XM_005266431.2:c.1784dup XP_005266488.1:p.Phe596ValfsTer2
XM_005266432.2:c.1820dup XP_005266489.1:p.Phe608ValfsTer2
XM_006719837.2:c.1724dup XP_006719900.1:p.Phe576ValfsTer2
XM_011535117.1:c.1724dup XP_011533419.1:p.Phe576ValfsTer2
XM_011535118.1:c.1820dup XP_011533420.1:p.Phe608ValfsTer2
XM_011535119.1:c.1820dup XP_011533421.1:p.Phe608ValfsTer2
XM_011535120.1:c.1707+3523dup XP_011533422.1:p.=
XM_011535121.1:c.1820dup XP_011533423.1:p.Phe608ValfsTer2
XM_011535122.1:c.488dup XP_011533424.1:p.Phe164ValfsTer2
XR_941601.1:n.2039dup
XR_941602.1:n.2039dup
XR_941603.1:n.2039dup
XR_941604.1:n.2039dup
NM_001330578.1:c.1820dup VV NP_001317507.1:p.Phe608ValfsTer2
NM_001330579.1:c.1820dup VV NP_001317508.1:p.Phe608ValfsTer2
XM_005266424.4:c.1724dup XP_005266481.1:p.Phe576ValfsTer2
XM_005266430.4:c.1820dup XP_005266487.1:p.Phe608ValfsTer2
XM_005266431.4:c.1784dup XP_005266488.1:p.Phe596ValfsTer2
XM_006719837.3:c.1724dup XP_006719900.1:p.Phe576ValfsTer2
XM_011535117.3:c.1724dup XP_011533419.1:p.Phe576ValfsTer2
XM_017020627.1:c.1724dup XP_016876116.1:p.Phe576ValfsTer2
ENST00000242839.8:c.1820dup ENSP00000242839.4:p.Phe608ValfsTer2
ENST00000344297.8:c.1820dup ENSP00000342559.5:p.Phe608ValfsTer2
ENST00000400366.5:c.1487dup ENSP00000383217.3:p.Phe497ValfsTer2
ENST00000400370.8:c.1285+9014dup ENSP00000383221.3:p.=
ENST00000418097.7:c.1820dup ENSP00000393343.2:p.Phe608ValfsTer2
ENST00000448424.6:c.1820dup ENSP00000416738.2:p.Phe608ValfsTer2
ENST00000482841.6:n.1664+5571dup
ENST00000483772.1:n.576dup
ENST00000634308.1:c.1820dup ENSP00000489234.1:p.Phe608ValfsTer2
ENST00000634620.1:n.312dup
ENST00000634844.1:c.1820dup ENSP00000489398.1:p.Phe608ValfsTer2
ENST00000635406.1:n.212-18443dup