Canonical Allele Identifier: CA2523264534
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946404_51946405insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCAC , CM000675.2:g.51946404_51946405insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCAC GRCh38
NC_000013.10:g.52520540_52520541insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCAC , CM000675.1:g.52520540_52520541insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCAC GRCh37
NC_000013.9:g.51418541_51418542insACGAGCACGGCCACGGCGCGAATCACCGCCCCTTCCACGCCCAGCCCGGCCAGCCAC NCBI36
NG_008806.1:g.70090_70091insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*772_*773insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000489512.2:n.*772_*773insGTGGCTGGCCGGGCTGGGCGTGGAAGGGG...
ENST00000673864.2:c.*1683_*1684insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000501045.2:n.*1683_*1684insGTGGCTGGCCGGGCTGGGCGTGGAAGG...
ENST00000674147.2:c.2318_2319insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000500964.2:p.Cys773delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000242839.10:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT MANE Select ENSP00000242839.5:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000344297.9:c.2318_2319insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000342559.5:p.Cys773delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000400366.6:c.2606_2607insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000383217.3:p.Cys869delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000448424.7:c.2687_2688insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000416738.3:p.Cys896delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000673772.1:c.2705_2706insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000501168.1:p.Cys902delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000673867.1:n.1086_1087insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
ENST00000674126.1:n.3302_3303insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
ENST00000674147.1:c.1874_1875insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000500964.1:p.Cys625delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000242839.8:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000242839.4:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000344297.8:c.2318_2319insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000342559.5:p.Cys773delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000400366.5:c.2606_2607insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000383217.3:p.Cys869delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000400370.8:c.1649_1650insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000383221.3:p.Cys550delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000418097.7:c.2866-2114_2866-2113insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000393343.2:n.2866-2114_2866-2113insGTGGCTGGCCGGGCTGGGC...
ENST00000448424.6:c.2705_2706insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000416738.2:p.Cys902delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000466629.1:n.159_160insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
ENST00000634296.1:c.900_901insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
ENST00000634308.1:c.*40_*41insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000489234.1:n.*40_*41insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCG...
ENST00000634620.1:n.3683_3684insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
ENST00000634810.1:n.2284_2285insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
ENST00000634844.1:c.2795_2796insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT ENSP00000489398.1:p.Cys932delinsTrpTrpLeuAlaGlyLeuGlyValGluGl...
ENST00000635406.1:n.285_286insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
NM_000053.3:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_000044.2:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaVa...
NM_001005918.2:c.2318_2319insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001005918.1:p.Cys773delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
NM_001243182.1:c.2606_2607insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001230111.1:p.Cys869delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266423.2:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266480.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266424.3:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266481.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266427.2:c.2705_2706insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266484.1:p.Cys902delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266428.1:c.2687_2688insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266485.1:p.Cys896delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266430.3:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266487.1:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266431.2:c.2903_2904insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266488.1:p.Cys968delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266432.2:c.2453_2454insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266489.1:p.Cys818delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_006719837.2:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_006719900.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_006719838.1:c.755_756insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_006719901.1:p.Cys252delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_006719839.1:c.755_756insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_006719902.1:p.Cys252delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_011535117.1:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533419.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_011535118.1:c.2804_2805insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533420.1:p.Cys935delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_011535119.1:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533421.1:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_011535120.1:c.2525_2526insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533422.1:p.Cys842delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_011535121.1:c.2730+3602_2730+3603insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533423.1:n.2730+3602_2730+3603insGTGGCTGGCCGGGCTGGGCGTG...
XM_011535122.1:c.1607_1608insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533424.1:p.Cys536delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XR_941601.1:n.3158_3159insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
XR_941602.1:n.3158_3159insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
XR_941603.1:n.3158_3159insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
XR_941604.1:n.3158_3159insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT
NM_001330578.1:c.2705_2706insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001317507.1:p.Cys902delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
NM_001330579.1:c.2687_2688insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001317508.1:p.Cys896delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266424.4:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266481.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266430.4:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266487.1:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_005266431.4:c.2903_2904insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_005266488.1:p.Cys968delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_006719837.3:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_006719900.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_011535117.3:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_011533419.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
XM_017020627.1:c.2843_2844insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT XP_016876116.1:p.Cys948delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
NM_000053.4:c.2939_2940insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT MANE Select NP_000044.2:p.Cys980delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAlaVa...
NM_001005918.3:c.2318_2319insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001005918.1:p.Cys773delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
NM_001330579.2:c.2687_2688insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001317508.1:p.Cys896delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
NM_001243182.2:c.2606_2607insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001230111.1:p.Cys869delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...
NM_001330578.2:c.2705_2706insGTGGCTGGCCGGGCTGGGCGTGGAAGGGGCGGTGATTCGCGCCGTGGCCGTGCTCGT NP_001317507.1:p.Cys902delinsTrpTrpLeuAlaGlyLeuGlyValGluGlyAl...