Canonical Allele Identifier: CA2695218753
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944265del , CM000675.2:g.51944265del GRCh38
NC_000013.10:g.52518401del , CM000675.1:g.52518401del GRCh37
NC_000013.9:g.51416402del NCBI36
NG_008806.1:g.72230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1711del ENSP00000489512.2:n.*894-1711del
ENST00000673864.2:c.*1831del ENSP00000501045.2:n.*1831del
ENST00000674147.2:c.2466del ENSP00000500964.2:p.Gly823AlafsTer?
ENST00000242839.10:c.3087del MANE Select ENSP00000242839.5:p.Gly1030AlafsTer?
ENST00000344297.9:c.2466del ENSP00000342559.5:p.Gly823AlafsTer?
ENST00000400366.6:c.2754del ENSP00000383217.3:p.Gly919AlafsTer?
ENST00000448424.7:c.2835del ENSP00000416738.3:p.Gly946AlafsTer?
ENST00000673772.1:c.2853del ENSP00000501168.1:p.Gly952AlafsTer?
ENST00000673867.1:n.3226del
ENST00000674126.1:n.3450del
ENST00000674147.1:c.2022del ENSP00000500964.1:p.Gly675AlafsTer?
ENST00000242839.8:c.3087del ENSP00000242839.4:p.Gly1030AlafsTer?
ENST00000344297.8:c.2466del ENSP00000342559.5:p.Gly823AlafsTer?
ENST00000400366.5:c.2754del ENSP00000383217.3:p.Gly919AlafsTer?
ENST00000400370.8:c.1797del ENSP00000383221.3:p.Gly600AlafsTer?
ENST00000418097.7:c.2892del ENSP00000393343.2:p.Gly965AlafsTer?
ENST00000448424.6:c.2853del ENSP00000416738.2:p.Gly952AlafsTer?
ENST00000466629.1:n.307del
ENST00000634296.1:c.1022-1711del
ENST00000634308.1:c.*188del ENSP00000489234.1:n.*188del
ENST00000634620.1:n.3831del
ENST00000634810.1:n.2432del
ENST00000634844.1:c.2943del ENSP00000489398.1:p.Gly982AlafsTer?
ENST00000635406.1:n.433del
NM_000053.3:c.3087del NP_000044.2:p.Gly1030AlafsTer?
NM_001005918.2:c.2466del NP_001005918.1:p.Gly823AlafsTer?
NM_001243182.1:c.2754del NP_001230111.1:p.Gly919AlafsTer?
XM_005266423.2:c.2991del XP_005266480.1:p.Gly998AlafsTer?
XM_005266424.3:c.2991del XP_005266481.1:p.Gly998AlafsTer?
XM_005266427.2:c.2853del XP_005266484.1:p.Gly952AlafsTer?
XM_005266428.1:c.2835del XP_005266485.1:p.Gly946AlafsTer?
XM_005266430.3:c.3087del XP_005266487.1:p.Gly1030AlafsTer?
XM_005266431.2:c.3051del XP_005266488.1:p.Gly1018AlafsTer?
XM_005266432.2:c.2601del XP_005266489.1:p.Gly868AlafsTer?
XM_006719837.2:c.2991del XP_006719900.1:p.Gly998AlafsTer?
XM_006719838.1:c.903del XP_006719901.1:p.Gly302AlafsTer?
XM_006719839.1:c.877-1711del XP_006719902.1:n.877-1711del
XM_011535117.1:c.2991del XP_011533419.1:p.Gly998AlafsTer?
XM_011535118.1:c.2952del XP_011533420.1:p.Gly985AlafsTer?
XM_011535119.1:c.3061-1711del XP_011533421.1:n.3061-1711del
XM_011535120.1:c.2673del XP_011533422.1:p.Gly892AlafsTer?
XM_011535121.1:c.2731-1711del XP_011533423.1:n.2731-1711del
XM_011535122.1:c.1755del XP_011533424.1:p.Gly586AlafsTer?
XR_941601.1:n.3306del
XR_941602.1:n.3306del
XR_941603.1:n.3306del
XR_941604.1:n.3306del
NM_001330578.1:c.2853del NP_001317507.1:p.Gly952AlafsTer?
NM_001330579.1:c.2835del NP_001317508.1:p.Gly946AlafsTer?
XM_005266424.4:c.2991del XP_005266481.1:p.Gly998AlafsTer?
XM_005266430.4:c.3087del XP_005266487.1:p.Gly1030AlafsTer?
XM_005266431.4:c.3051del XP_005266488.1:p.Gly1018AlafsTer?
XM_006719837.3:c.2991del XP_006719900.1:p.Gly998AlafsTer?
XM_011535117.3:c.2991del XP_011533419.1:p.Gly998AlafsTer?
XM_017020627.1:c.2991del XP_016876116.1:p.Gly998AlafsTer?
NM_000053.4:c.3087del MANE Select NP_000044.2:p.Gly1030AlafsTer?
NM_001005918.3:c.2466del NP_001005918.1:p.Gly823AlafsTer?
NM_001330579.2:c.2835del NP_001317508.1:p.Gly946AlafsTer?
NM_001243182.2:c.2754del NP_001230111.1:p.Gly919AlafsTer?
NM_001330578.2:c.2853del NP_001317507.1:p.Gly952AlafsTer?