Canonical Allele Identifier: CA2695218773
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51939111_51939112del , CM000675.2:g.51939111_51939112del GRCh38
NC_000013.10:g.52513247_52513248del , CM000675.1:g.52513247_52513248del GRCh37
NC_000013.9:g.51411248_51411249del NCBI36
NG_008806.1:g.77386_77387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*1291_*1292del ENSP00000489512.2:n.*1291_*1292del
ENST00000673864.2:c.*2385_*2386del ENSP00000501045.2:n.*2385_*2386del
ENST00000674147.2:c.3020_3021del ENSP00000500964.2:p.Val1007GlyfsTer?
ENST00000242839.10:c.3641_3642del MANE Select ENSP00000242839.5:p.Val1214GlyfsTer?
ENST00000344297.9:c.3020_3021del ENSP00000342559.5:p.Val1007GlyfsTer?
ENST00000400366.6:c.3308_3309del ENSP00000383217.3:p.Val1103GlyfsTer?
ENST00000448424.7:c.3389_3390del ENSP00000416738.3:p.Val1130GlyfsTer?
ENST00000673696.1:n.882_883del
ENST00000673772.1:c.3407_3408del ENSP00000501168.1:p.Val1136GlyfsTer?
ENST00000673867.1:n.3780_3781del
ENST00000673923.1:n.507_508del
ENST00000674147.1:c.2576_2577del ENSP00000500964.1:p.Val859GlyfsTer?
ENST00000242839.8:c.3641_3642del ENSP00000242839.4:p.Val1214GlyfsTer?
ENST00000344297.8:c.3020_3021del ENSP00000342559.5:p.Val1007GlyfsTer?
ENST00000400366.5:c.3308_3309del ENSP00000383217.3:p.Val1103GlyfsTer?
ENST00000400370.8:c.2351_2352del ENSP00000383221.3:p.Val784GlyfsTer?
ENST00000418097.7:c.3446_3447del ENSP00000393343.2:p.Val1149GlyfsTer?
ENST00000448424.6:c.3407_3408del ENSP00000416738.2:p.Val1136GlyfsTer?
ENST00000634296.1:c.1419_1420del
ENST00000634308.1:c.*742_*743del ENSP00000489234.1:n.*742_*743del
ENST00000634620.1:n.4385_4386del
ENST00000634810.1:n.2986_2987del
ENST00000634844.1:c.3497_3498del ENSP00000489398.1:p.Val1166GlyfsTer?
NM_000053.3:c.3641_3642del NP_000044.2:p.Val1214GlyfsTer?
NM_001005918.2:c.3020_3021del NP_001005918.1:p.Val1007GlyfsTer?
NM_001243182.1:c.3308_3309del NP_001230111.1:p.Val1103GlyfsTer?
XM_005266423.2:c.3545_3546del XP_005266480.1:p.Val1182GlyfsTer?
XM_005266424.3:c.3545_3546del XP_005266481.1:p.Val1182GlyfsTer?
XM_005266427.2:c.3407_3408del XP_005266484.1:p.Val1136GlyfsTer?
XM_005266428.1:c.3389_3390del XP_005266485.1:p.Val1130GlyfsTer?
XM_005266430.3:c.3641_3642del XP_005266487.1:p.Val1214GlyfsTer?
XM_005266431.2:c.3605_3606del XP_005266488.1:p.Val1202GlyfsTer?
XM_005266432.2:c.3155_3156del XP_005266489.1:p.Val1052GlyfsTer?
XM_006719837.2:c.3545_3546del XP_006719900.1:p.Val1182GlyfsTer?
XM_006719838.1:c.1457_1458del XP_006719901.1:p.Val486GlyfsTer?
XM_006719839.1:c.1274_1275del XP_006719902.1:p.Val425GlyfsTer?
XM_011535117.1:c.3545_3546del XP_011533419.1:p.Val1182GlyfsTer?
XM_011535118.1:c.3506_3507del XP_011533420.1:p.Val1169GlyfsTer?
XM_011535119.1:c.3458_3459del XP_011533421.1:p.Val1153GlyfsTer?
XM_011535120.1:c.3227_3228del XP_011533422.1:p.Val1076GlyfsTer?
XM_011535121.1:c.3128_3129del XP_011533423.1:p.Val1043GlyfsTer?
XM_011535122.1:c.2309_2310del XP_011533424.1:p.Val770GlyfsTer?
XR_941601.1:n.3860_3861del
XR_941602.1:n.3860_3861del
XR_941603.1:n.3860_3861del
XR_941604.1:n.3860_3861del
NM_001330578.1:c.3407_3408del NP_001317507.1:p.Val1136GlyfsTer?
NM_001330579.1:c.3389_3390del NP_001317508.1:p.Val1130GlyfsTer?
XM_005266424.4:c.3545_3546del XP_005266481.1:p.Val1182GlyfsTer?
XM_005266430.4:c.3641_3642del XP_005266487.1:p.Val1214GlyfsTer?
XM_005266431.4:c.3605_3606del XP_005266488.1:p.Val1202GlyfsTer?
XM_006719837.3:c.3545_3546del XP_006719900.1:p.Val1182GlyfsTer?
XM_011535117.3:c.3545_3546del XP_011533419.1:p.Val1182GlyfsTer?
XM_017020627.1:c.3545_3546del XP_016876116.1:p.Val1182GlyfsTer?
NM_000053.4:c.3641_3642del MANE Select NP_000044.2:p.Val1214GlyfsTer?
NM_001005918.3:c.3020_3021del NP_001005918.1:p.Val1007GlyfsTer?
NM_001330579.2:c.3389_3390del NP_001317508.1:p.Val1130GlyfsTer?
NM_001243182.2:c.3308_3309del NP_001230111.1:p.Val1103GlyfsTer?
NM_001330578.2:c.3407_3408del NP_001317507.1:p.Val1136GlyfsTer?