Canonical Allele Identifier: CA16041662
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370092
ClinVar RCV Id: RCV000410818
dbSNP Id: rs1057516227

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937354_51937355del , CM000675.2:g.51937354_51937355del GRCh38
NC_000013.9:g.51409491_51409492del NCBI36
NC_000013.10:g.52511490_52511491del , CM000675.1:g.52511490_52511491del GRCh37
NG_008806.1:g.79140_79141del

Transcript Alleles

HGVS Amino-acid change
ENST00000242839.8:c.3942_3943del ENSP00000242839.4:p.Lys1315GlufsTer17
ENST00000344297.8:c.3321_3322del ENSP00000342559.5:p.Lys1108GlufsTer17
ENST00000400366.5:c.3609_3610del ENSP00000383217.3:p.Lys1204GlufsTer17
ENST00000400370.8:c.2652_2653del ENSP00000383221.3:p.Lys885GlufsTer17
ENST00000418097.7:c.3747_3748del ENSP00000393343.2:p.Lys1250GlufsTer17
ENST00000448424.6:c.3708_3709del ENSP00000416738.2:p.Lys1237GlufsTer17
ENST00000634296.1:n.1720_1721del
ENST00000634308.1:c.*1043_*1044del ENSP00000489234.1:p.=
ENST00000634620.1:n.4686_4687del
ENST00000634810.1:n.3287_3288del
ENST00000634844.1:c.3798_3799del ENSP00000489398.1:p.Lys1267GlufsTer17
NM_000053.3:c.3942_3943del VV NP_000044.2:p.Lys1315GlufsTer17
NM_001005918.2:c.3321_3322del VV NP_001005918.1:p.Lys1108GlufsTer17
NM_001243182.1:c.3609_3610del VV NP_001230111.1:p.Lys1204GlufsTer17
XM_005266423.2:c.3846_3847del XP_005266480.1:p.Lys1283GlufsTer17
XM_005266424.3:c.3846_3847del XP_005266481.1:p.Lys1283GlufsTer17
XM_005266427.2:c.3708_3709del XP_005266484.1:p.Lys1237GlufsTer17
XM_005266428.1:c.3690_3691del XP_005266485.1:p.Lys1231GlufsTer17
XM_005266430.3:c.3942_3943del XP_005266487.1:p.Lys1315GlufsTer17
XM_005266431.2:c.3906_3907del XP_005266488.1:p.Lys1303GlufsTer17
XM_005266432.2:c.3456_3457del XP_005266489.1:p.Lys1153GlufsTer17
XM_006719837.2:c.3846_3847del XP_006719900.1:p.Lys1283GlufsTer17
XM_006719838.1:c.1758_1759del XP_006719901.1:p.Lys587GlufsTer17
XM_006719839.1:c.1575_1576del XP_006719902.1:p.Lys526GlufsTer17
XM_011535117.1:c.3846_3847del XP_011533419.1:p.Lys1283GlufsTer17
XM_011535118.1:c.3807_3808del XP_011533420.1:p.Lys1270GlufsTer17
XM_011535119.1:c.3759_3760del XP_011533421.1:p.Lys1254GlufsTer17
XM_011535120.1:c.3528_3529del XP_011533422.1:p.Lys1177GlufsTer17
XM_011535121.1:c.3429_3430del XP_011533423.1:p.Lys1144GlufsTer17
XM_011535122.1:c.2610_2611del XP_011533424.1:p.Lys871GlufsTer17
XR_941601.1:n.4161_4162del
XR_941602.1:n.4161_4162del
XR_941603.1:n.4161_4162del
XR_941604.1:n.4161_4162del