Canonical Allele Identifier: CA2842344216
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51961927dup , CM000675.2:g.51961927dup GRCh38
NC_000013.10:g.52536063dup , CM000675.1:g.52536063dup GRCh37
NC_000013.9:g.51434064dup NCBI36
NG_008806.1:g.54572dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.1870-10dup ENSP00000489512.2:n.1870-10dup
ENST00000673864.2:c.*614-10dup ENSP00000501045.2:n.*614-10dup
ENST00000674147.2:c.1869+2949dup ENSP00000500964.2:n.1869+2949dup
ENST00000242839.10:c.1870-10dup MANE Select ENSP00000242839.5:n.1870-10dup
ENST00000344297.9:c.1869+2949dup ENSP00000342559.5:n.1869+2949dup
ENST00000400366.6:c.1537-10dup ENSP00000383217.3:n.1537-10dup
ENST00000448424.7:c.1869+2949dup ENSP00000416738.3:n.1869+2949dup
ENST00000673772.1:c.1870-10dup ENSP00000501168.1:n.1870-10dup
ENST00000674147.1:c.1425+2949dup ENSP00000500964.1:n.1425+2949dup
ENST00000242839.8:c.1870-10dup ENSP00000242839.4:n.1870-10dup
ENST00000344297.8:c.1869+2949dup ENSP00000342559.5:n.1869+2949dup
ENST00000400366.5:c.1537-10dup ENSP00000383217.3:n.1537-10dup
ENST00000400370.8:c.1286-11762dup ENSP00000383221.3:n.1286-11762dup
ENST00000418097.7:c.1870-10dup ENSP00000393343.2:n.1870-10dup
ENST00000448424.6:c.1870-10dup ENSP00000416738.2:n.1870-10dup
ENST00000482841.6:n.1665-3379dup
ENST00000634296.1:c.6-10dup
ENST00000634308.1:c.1870-10dup ENSP00000489234.1:n.1870-10dup
ENST00000634620.1:n.362-10dup
ENST00000634844.1:c.1870-10dup ENSP00000489398.1:n.1870-10dup
ENST00000635406.1:n.212-15445dup
NM_000053.3:c.1870-10dup NP_000044.2:n.1870-10dup
NM_001005918.2:c.1869+2949dup NP_001005918.1:n.1869+2949dup
NM_001243182.1:c.1537-10dup NP_001230111.1:n.1537-10dup
XM_005266423.2:c.1774-10dup XP_005266480.1:n.1774-10dup
XM_005266424.3:c.1774-10dup XP_005266481.1:n.1774-10dup
XM_005266427.2:c.1870-10dup XP_005266484.1:n.1870-10dup
XM_005266428.1:c.1869+2949dup XP_005266485.1:n.1869+2949dup
XM_005266430.3:c.1870-10dup XP_005266487.1:n.1870-10dup
XM_005266431.2:c.1834-10dup XP_005266488.1:n.1834-10dup
XM_005266432.2:c.1869+2949dup XP_005266489.1:n.1869+2949dup
XM_006719837.2:c.1774-10dup XP_006719900.1:n.1774-10dup
XM_011535117.1:c.1774-10dup XP_011533419.1:n.1774-10dup
XM_011535118.1:c.1870-10dup XP_011533420.1:n.1870-10dup
XM_011535119.1:c.1870-10dup XP_011533421.1:n.1870-10dup
XM_011535120.1:c.1708-3379dup XP_011533422.1:n.1708-3379dup
XM_011535121.1:c.1870-10dup XP_011533423.1:n.1870-10dup
XM_011535122.1:c.538-10dup XP_011533424.1:n.538-10dup
XR_941601.1:n.2089-10dup
XR_941602.1:n.2089-10dup
XR_941603.1:n.2089-10dup
XR_941604.1:n.2089-10dup
NM_001330578.1:c.1870-10dup NP_001317507.1:n.1870-10dup
NM_001330579.1:c.1869+2949dup NP_001317508.1:n.1869+2949dup
XM_005266424.4:c.1774-10dup XP_005266481.1:n.1774-10dup
XM_005266430.4:c.1870-10dup XP_005266487.1:n.1870-10dup
XM_005266431.4:c.1834-10dup XP_005266488.1:n.1834-10dup
XM_006719837.3:c.1774-10dup XP_006719900.1:n.1774-10dup
XM_011535117.3:c.1774-10dup XP_011533419.1:n.1774-10dup
XM_017020627.1:c.1774-10dup XP_016876116.1:n.1774-10dup
NM_000053.4:c.1870-10dup MANE Select NP_000044.2:n.1870-10dup
NM_001005918.3:c.1869+2949dup NP_001005918.1:n.1869+2949dup
NM_001330579.2:c.1869+2949dup NP_001317508.1:n.1869+2949dup
NM_001243182.2:c.1537-10dup NP_001230111.1:n.1537-10dup
NM_001330578.2:c.1870-10dup NP_001317507.1:n.1870-10dup