Canonical Allele Identifier: CA2499222484
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1163064
dbSNP Id: rs2138562773

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937350_51937355delinsTCT , CM000675.2:g.51937350_51937355delinsTCT GRCh38
NC_000013.10:g.52511486_52511491delinsTCT , CM000675.1:g.52511486_52511491delinsTCT GRCh37
NC_000013.9:g.51409487_51409492delinsTCT NCBI36
NG_008806.1:g.79140_79145delinsAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*1592_*1597delinsAGA ENSP00000489512.2:n.*1592_*1597delinsAGA
ENST00000673864.2:c.*2686_*2691delinsAGA ENSP00000501045.2:n.*2686_*2691delinsAGA
ENST00000674147.2:c.3321_3326delinsAGA ENSP00000500964.2:p.Lys1108_Arg1109delins...
ENST00000242839.10:c.3942_3947delinsAGA MANE Select ENSP00000242839.5:p.Lys1315_Arg1316delins...
ENST00000344297.9:c.3321_3326delinsAGA ENSP00000342559.5:p.Lys1108_Arg1109delins...
ENST00000400366.6:c.3609_3614delinsAGA ENSP00000383217.3:p.Lys1204_Arg1205delins...
ENST00000448424.7:c.3690_3695delinsAGA ENSP00000416738.3:p.Lys1231_Arg1232delins...
ENST00000673696.1:n.1265_1270delinsAGA
ENST00000673772.1:c.3708_3713delinsAGA ENSP00000501168.1:p.Lys1237_Arg1238delins...
ENST00000673867.1:n.4081_4086delinsAGA
ENST00000673923.1:n.808_813delinsAGA
ENST00000674147.1:c.2877_2882delinsAGA ENSP00000500964.1:p.Lys960_Arg961delinsGl...
ENST00000242839.8:c.3942_3947delinsAGA ENSP00000242839.4:p.Lys1315_Arg1316delins...
ENST00000344297.8:c.3321_3326delinsAGA ENSP00000342559.5:p.Lys1108_Arg1109delins...
ENST00000400366.5:c.3609_3614delinsAGA ENSP00000383217.3:p.Lys1204_Arg1205delins...
ENST00000400370.8:c.2652_2657delinsAGA ENSP00000383221.3:p.Lys885_Arg886delinsGl...
ENST00000418097.7:c.3747_3752delinsAGA ENSP00000393343.2:p.Lys1250_Arg1251delins...
ENST00000448424.6:c.3708_3713delinsAGA ENSP00000416738.2:p.Lys1237_Arg1238delins...
ENST00000634296.1:c.1720_1725delinsAGA
ENST00000634308.1:c.*1043_*1048delinsAGA ENSP00000489234.1:n.*1043_*1048delinsAGA
ENST00000634620.1:n.4686_4691delinsAGA
ENST00000634810.1:n.3287_3292delinsAGA
ENST00000634844.1:c.3798_3803delinsAGA ENSP00000489398.1:p.Lys1267_Arg1268delins...
NM_000053.3:c.3942_3947delinsAGA NP_000044.2:p.Lys1315_Arg1316delinsGlu
NM_001005918.2:c.3321_3326delinsAGA NP_001005918.1:p.Lys1108_Arg1109delinsGlu...
NM_001243182.1:c.3609_3614delinsAGA NP_001230111.1:p.Lys1204_Arg1205delinsGlu...
XM_005266423.2:c.3846_3851delinsAGA XP_005266480.1:p.Lys1283_Arg1284delinsGlu...
XM_005266424.3:c.3846_3851delinsAGA XP_005266481.1:p.Lys1283_Arg1284delinsGlu...
XM_005266427.2:c.3708_3713delinsAGA XP_005266484.1:p.Lys1237_Arg1238delinsGlu...
XM_005266428.1:c.3690_3695delinsAGA XP_005266485.1:p.Lys1231_Arg1232delinsGlu...
XM_005266430.3:c.3942_3947delinsAGA XP_005266487.1:p.Lys1315_Arg1316delinsGlu...
XM_005266431.2:c.3906_3911delinsAGA XP_005266488.1:p.Lys1303_Arg1304delinsGlu...
XM_005266432.2:c.3456_3461delinsAGA XP_005266489.1:p.Lys1153_Arg1154delinsGlu...
XM_006719837.2:c.3846_3851delinsAGA XP_006719900.1:p.Lys1283_Arg1284delinsGlu...
XM_006719838.1:c.1758_1763delinsAGA XP_006719901.1:p.Lys587_Arg588delinsGlu
XM_006719839.1:c.1575_1580delinsAGA XP_006719902.1:p.Lys526_Arg527delinsGlu
XM_011535117.1:c.3846_3851delinsAGA XP_011533419.1:p.Lys1283_Arg1284delinsGlu...
XM_011535118.1:c.3807_3812delinsAGA XP_011533420.1:p.Lys1270_Arg1271delinsGlu...
XM_011535119.1:c.3759_3764delinsAGA XP_011533421.1:p.Lys1254_Arg1255delinsGlu...
XM_011535120.1:c.3528_3533delinsAGA XP_011533422.1:p.Lys1177_Arg1178delinsGlu...
XM_011535121.1:c.3429_3434delinsAGA XP_011533423.1:p.Lys1144_Arg1145delinsGlu...
XM_011535122.1:c.2610_2615delinsAGA XP_011533424.1:p.Lys871_Arg872delinsGlu
XR_941601.1:n.4161_4166delinsAGA
XR_941602.1:n.4161_4166delinsAGA
XR_941603.1:n.4161_4166delinsAGA
XR_941604.1:n.4161_4166delinsAGA
NM_001330578.1:c.3708_3713delinsAGA NP_001317507.1:p.Lys1237_Arg1238delinsGlu...
NM_001330579.1:c.3690_3695delinsAGA NP_001317508.1:p.Lys1231_Arg1232delinsGlu...
XM_005266424.4:c.3846_3851delinsAGA XP_005266481.1:p.Lys1283_Arg1284delinsGlu...
XM_005266430.4:c.3942_3947delinsAGA XP_005266487.1:p.Lys1315_Arg1316delinsGlu...
XM_005266431.4:c.3906_3911delinsAGA XP_005266488.1:p.Lys1303_Arg1304delinsGlu...
XM_006719837.3:c.3846_3851delinsAGA XP_006719900.1:p.Lys1283_Arg1284delinsGlu...
XM_011535117.3:c.3846_3851delinsAGA XP_011533419.1:p.Lys1283_Arg1284delinsGlu...
XM_017020627.1:c.3846_3851delinsAGA XP_016876116.1:p.Lys1283_Arg1284delinsGlu...
NM_000053.4:c.3942_3947delinsAGA MANE Select NP_000044.2:p.Lys1315_Arg1316delinsGlu
NM_001005918.3:c.3321_3326delinsAGA NP_001005918.1:p.Lys1108_Arg1109delinsGlu...
NM_001330579.2:c.3690_3695delinsAGA NP_001317508.1:p.Lys1231_Arg1232delinsGlu...
NM_001243182.2:c.3609_3614delinsAGA NP_001230111.1:p.Lys1204_Arg1205delinsGlu...
NM_001330578.2:c.3708_3713delinsAGA NP_001317507.1:p.Lys1237_Arg1238delinsGlu...