Canonical Allele Identifier: CA2695218064
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958333_51958334delinsGT , CM000675.2:g.51958333_51958334delinsGT GRCh38
NC_000013.10:g.52532469_52532470delinsGT , CM000675.1:g.52532469_52532470delinsGT GRCh37
NC_000013.9:g.51430470_51430471delinsGT NCBI36
NG_008806.1:g.58161_58162delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*165_*166delinsAC ENSP00000489512.2:n.*165_*166delinsAC
ENST00000673864.2:c.*1076_*1077delinsAC ENSP00000501045.2:n.*1076_*1077delinsAC
ENST00000674147.2:c.1870-727_1870-726delinsAC ENSP00000500964.2:n.1870-727_1870-726deli...
ENST00000242839.10:c.2332_2333delinsAC MANE Select ENSP00000242839.5:p.Arg778Thr
ENST00000344297.9:c.1870-727_1870-726delinsAC ENSP00000342559.5:n.1870-727_1870-726deli...
ENST00000400366.6:c.1999_2000delinsAC ENSP00000383217.3:p.Arg667Thr
ENST00000448424.7:c.2080_2081delinsAC ENSP00000416738.3:p.Arg694Thr
ENST00000673772.1:c.2122-727_2122-726delinsAC ENSP00000501168.1:n.2122-727_2122-726deli...
ENST00000674147.1:c.1426-727_1426-726delinsAC ENSP00000500964.1:n.1426-727_1426-726deli...
ENST00000242839.8:c.2332_2333delinsAC ENSP00000242839.4:p.Arg778Thr
ENST00000344297.8:c.1870-727_1870-726delinsAC ENSP00000342559.5:n.1870-727_1870-726deli...
ENST00000400366.5:c.1999_2000delinsAC ENSP00000383217.3:p.Arg667Thr
ENST00000400370.8:c.1286-8173_1286-8172delinsAC ENSP00000383221.3:n.1286-8173_1286-8172de...
ENST00000418097.7:c.2332_2333delinsAC ENSP00000393343.2:p.Arg778Thr
ENST00000448424.6:c.2122-727_2122-726delinsAC ENSP00000416738.2:n.2122-727_2122-726deli...
ENST00000634296.1:c.293_294delinsAC
ENST00000634308.1:c.2122-727_2122-726delinsAC ENSP00000489234.1:n.2122-727_2122-726deli...
ENST00000634620.1:n.2427_2428delinsAC
ENST00000634810.1:n.1677_1678delinsAC
ENST00000634844.1:c.2188_2189delinsAC ENSP00000489398.1:p.Arg730Thr
ENST00000635406.1:n.212-11856_212-11855delinsAC
NM_000053.3:c.2332_2333delinsAC NP_000044.2:p.Arg778Thr
NM_001005918.2:c.1870-727_1870-726delinsAC NP_001005918.1:n.1870-727_1870-726delinsA...
NM_001243182.1:c.1999_2000delinsAC NP_001230111.1:p.Arg667Thr
XM_005266423.2:c.2236_2237delinsAC XP_005266480.1:p.Arg746Thr
XM_005266424.3:c.2236_2237delinsAC XP_005266481.1:p.Arg746Thr
XM_005266427.2:c.2122-727_2122-726delinsAC XP_005266484.1:n.2122-727_2122-726delinsA...
XM_005266428.1:c.2080_2081delinsAC XP_005266485.1:p.Arg694Thr
XM_005266430.3:c.2332_2333delinsAC XP_005266487.1:p.Arg778Thr
XM_005266431.2:c.2296_2297delinsAC XP_005266488.1:p.Arg766Thr
XM_005266432.2:c.1870-727_1870-726delinsAC XP_005266489.1:n.1870-727_1870-726delinsA...
XM_006719837.2:c.2236_2237delinsAC XP_006719900.1:p.Arg746Thr
XM_006719838.1:c.148_149delinsAC XP_006719901.1:p.Arg50Thr
XM_006719839.1:c.148_149delinsAC XP_006719902.1:p.Arg50Thr
XM_011535117.1:c.2236_2237delinsAC XP_011533419.1:p.Arg746Thr
XM_011535118.1:c.2332_2333delinsAC XP_011533420.1:p.Arg778Thr
XM_011535119.1:c.2332_2333delinsAC XP_011533421.1:p.Arg778Thr
XM_011535120.1:c.1918_1919delinsAC XP_011533422.1:p.Arg640Thr
XM_011535121.1:c.2332_2333delinsAC XP_011533423.1:p.Arg778Thr
XM_011535122.1:c.1000_1001delinsAC XP_011533424.1:p.Arg334Thr
XR_941601.1:n.2551_2552delinsAC
XR_941602.1:n.2551_2552delinsAC
XR_941603.1:n.2551_2552delinsAC
XR_941604.1:n.2551_2552delinsAC
NM_001330578.1:c.2122-727_2122-726delinsAC NP_001317507.1:n.2122-727_2122-726delinsA...
NM_001330579.1:c.2080_2081delinsAC NP_001317508.1:p.Arg694Thr
XM_005266424.4:c.2236_2237delinsAC XP_005266481.1:p.Arg746Thr
XM_005266430.4:c.2332_2333delinsAC XP_005266487.1:p.Arg778Thr
XM_005266431.4:c.2296_2297delinsAC XP_005266488.1:p.Arg766Thr
XM_006719837.3:c.2236_2237delinsAC XP_006719900.1:p.Arg746Thr
XM_011535117.3:c.2236_2237delinsAC XP_011533419.1:p.Arg746Thr
XM_017020627.1:c.2236_2237delinsAC XP_016876116.1:p.Arg746Thr
NM_000053.4:c.2332_2333delinsAC MANE Select NP_000044.2:p.Arg778Thr
NM_001005918.3:c.1870-727_1870-726delinsAC NP_001005918.1:n.1870-727_1870-726delinsA...
NM_001330579.2:c.2080_2081delinsAC NP_001317508.1:p.Arg694Thr
NM_001243182.2:c.1999_2000delinsAC NP_001230111.1:p.Arg667Thr
NM_001330578.2:c.2122-727_2122-726delinsAC NP_001317507.1:n.2122-727_2122-726delinsA...