Canonical Allele Identifier: CA10603190
Community Standard Title: NM_000053.4(ATP7B):c.4195del (p.Gln1399ArgfsTer6)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934961del , CM000675.2:g.51934961del GRCh38
NC_000013.10:g.52509097del , CM000675.1:g.52509097del GRCh37
NC_000013.9:g.51407098del NCBI36
NG_008806.1:g.81536del

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4195del MANE Select NP_000044.2:p.Gln1399ArgfsTer6
ENST00000242839.10:c.4195del MANE Select ENSP00000242839.5:p.Gln1399ArgfsTer6
NM_000053.3:c.4195del NP_000044.2:p.Gln1399ArgfsTer6
NM_001005918.2:c.3574del NP_001005918.1:p.Gln1192ArgfsTer6
NM_001005918.3:c.3574del NP_001005918.1:p.Gln1192ArgfsTer6
NM_001243182.1:c.3862del NP_001230111.1:p.Gln1288ArgfsTer6
NM_001243182.2:c.3862del NP_001230111.1:p.Gln1288ArgfsTer6
NM_001330578.1:c.3961del NP_001317507.1:p.Gln1321ArgfsTer6
NM_001330578.2:c.3961del NP_001317507.1:p.Gln1321ArgfsTer6
NM_001330579.1:c.3943del NP_001317508.1:p.Gln1315ArgfsTer6
NM_001330579.2:c.3943del NP_001317508.1:p.Gln1315ArgfsTer6
ENST00000242839.8:c.4195del ENSP00000242839.4:p.Gln1399ArgfsTer6
ENST00000344297.8:c.3574del ENSP00000342559.5:p.Gln1192ArgfsTer6
ENST00000344297.9:c.3574del ENSP00000342559.5:p.Gln1192ArgfsTer6
ENST00000400366.5:c.3862del ENSP00000383217.3:p.Gln1288ArgfsTer6
ENST00000400366.6:c.3862del ENSP00000383217.3:p.Gln1288ArgfsTer6
ENST00000400370.8:c.2905del ENSP00000383221.3:p.Gln969ArgfsTer6
ENST00000418097.7:c.4000del ENSP00000393343.2:p.Gln1334ArgfsTer6
ENST00000448424.6:c.3961del ENSP00000416738.2:p.Gln1321ArgfsTer6
ENST00000448424.7:c.3943del ENSP00000416738.3:p.Gln1315ArgfsTer6
ENST00000634296.1:c.1973del
ENST00000634296.2:c.*1845del ENSP00000489512.2:n.*1845del
ENST00000634308.1:c.*1296del ENSP00000489234.1:n.*1296del
ENST00000634620.1:n.4939del
ENST00000634810.1:n.3540del
ENST00000634844.1:c.4051del ENSP00000489398.1:p.Gln1351ArgfsTer6
ENST00000673696.1:n.1518del
ENST00000673772.1:c.3961del ENSP00000501168.1:p.Gln1321ArgfsTer6
ENST00000673864.2:c.*2939del ENSP00000501045.2:n.*2939del
ENST00000673867.1:n.4334del
ENST00000673923.1:n.1061del
ENST00000674147.1:c.3130del ENSP00000500964.1:p.Gln1044ArgfsTer6
ENST00000674147.2:c.3574del ENSP00000500964.2:p.Gln1192ArgfsTer6
XM_005266423.2:c.4099del XP_005266480.1:p.Gln1367ArgfsTer6
XM_005266424.3:c.4099del XP_005266481.1:p.Gln1367ArgfsTer6
XM_005266424.4:c.4099del XP_005266481.1:p.Gln1367ArgfsTer6
XM_005266427.2:c.3961del XP_005266484.1:p.Gln1321ArgfsTer6
XM_005266428.1:c.3943del XP_005266485.1:p.Gln1315ArgfsTer6
XM_005266430.3:c.4195del XP_005266487.1:p.Gln1399ArgfsTer6
XM_005266430.4:c.4195del XP_005266487.1:p.Gln1399ArgfsTer6
XM_005266431.2:c.4159del XP_005266488.1:p.Gln1387ArgfsTer6
XM_005266431.4:c.4159del XP_005266488.1:p.Gln1387ArgfsTer6
XM_005266432.2:c.3709del XP_005266489.1:p.Gln1237ArgfsTer6
XM_006719837.2:c.4099del XP_006719900.1:p.Gln1367ArgfsTer6
XM_006719837.3:c.4099del XP_006719900.1:p.Gln1367ArgfsTer6
XM_006719838.1:c.2011del XP_006719901.1:p.Gln671ArgfsTer6
XM_006719839.1:c.1828del XP_006719902.1:p.Gln610ArgfsTer6
XM_011535117.1:c.4099del XP_011533419.1:p.Gln1367ArgfsTer6
XM_011535117.3:c.4099del XP_011533419.1:p.Gln1367ArgfsTer6
XM_011535118.1:c.4060del XP_011533420.1:p.Gln1354ArgfsTer6
XM_011535119.1:c.4012del XP_011533421.1:p.Gln1338ArgfsTer6
XM_011535120.1:c.3781del XP_011533422.1:p.Gln1261ArgfsTer6
XM_011535121.1:c.3682del XP_011533423.1:p.Gln1228ArgfsTer6
XM_011535122.1:c.2863del XP_011533424.1:p.Gln955ArgfsTer6
XM_017020627.1:c.4099del XP_016876116.1:p.Gln1367ArgfsTer6
XR_941601.1:n.4414del
XR_941602.1:n.4414del
XR_941603.1:n.4414del
XR_941604.1:n.4414del