Canonical Allele Identifier: CA2695218743

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937478dup , CM000675.2:g.51937478dup	GRCh38
NC_000013.10:g.52511614dup , CM000675.1:g.52511614dup	GRCh37
NC_000013.9:g.51409615dup	NCBI36
NG_008806.1:g.79017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1551dup	ENSP00000489512.2:n.*1551dup
ENST00000673864.2:c.*2645dup	ENSP00000501045.2:n.*2645dup
ENST00000674147.2:c.3280dup	ENSP00000500964.2:p.Arg1094LysfsTer3
ENST00000242839.10:c.3901dup MANE Select	ENSP00000242839.5:p.Arg1301LysfsTer3
ENST00000344297.9:c.3280dup	ENSP00000342559.5:p.Arg1094LysfsTer3
ENST00000400366.6:c.3568dup	ENSP00000383217.3:p.Arg1190LysfsTer3
ENST00000448424.7:c.3649dup	ENSP00000416738.3:p.Arg1217LysfsTer3
ENST00000673696.1:n.1142dup
ENST00000673772.1:c.3667dup	ENSP00000501168.1:p.Arg1223LysfsTer3
ENST00000673867.1:n.4040dup
ENST00000673923.1:n.767dup
ENST00000674147.1:c.2836dup	ENSP00000500964.1:p.Arg946LysfsTer3
ENST00000242839.8:c.3901dup	ENSP00000242839.4:p.Arg1301LysfsTer3
ENST00000344297.8:c.3280dup	ENSP00000342559.5:p.Arg1094LysfsTer3
ENST00000400366.5:c.3568dup	ENSP00000383217.3:p.Arg1190LysfsTer3
ENST00000400370.8:c.2611dup	ENSP00000383221.3:p.Arg871LysfsTer3
ENST00000418097.7:c.3706dup	ENSP00000393343.2:p.Arg1236LysfsTer3
ENST00000448424.6:c.3667dup	ENSP00000416738.2:p.Arg1223LysfsTer3
ENST00000634296.1:c.1679dup
ENST00000634308.1:c.*1002dup	ENSP00000489234.1:n.*1002dup
ENST00000634620.1:n.4645dup
ENST00000634810.1:n.3246dup
ENST00000634844.1:c.3757dup	ENSP00000489398.1:p.Arg1253LysfsTer3
NM_000053.3:c.3901dup	NP_000044.2:p.Arg1301LysfsTer3
NM_001005918.2:c.3280dup	NP_001005918.1:p.Arg1094LysfsTer3
NM_001243182.1:c.3568dup	NP_001230111.1:p.Arg1190LysfsTer3
XM_005266423.2:c.3805dup	XP_005266480.1:p.Arg1269LysfsTer3
XM_005266424.3:c.3805dup	XP_005266481.1:p.Arg1269LysfsTer3
XM_005266427.2:c.3667dup	XP_005266484.1:p.Arg1223LysfsTer3
XM_005266428.1:c.3649dup	XP_005266485.1:p.Arg1217LysfsTer3
XM_005266430.3:c.3901dup	XP_005266487.1:p.Arg1301LysfsTer3
XM_005266431.2:c.3865dup	XP_005266488.1:p.Arg1289LysfsTer3
XM_005266432.2:c.3415dup	XP_005266489.1:p.Arg1139LysfsTer3
XM_006719837.2:c.3805dup	XP_006719900.1:p.Arg1269LysfsTer3
XM_006719838.1:c.1717dup	XP_006719901.1:p.Arg573LysfsTer3
XM_006719839.1:c.1534dup	XP_006719902.1:p.Arg512LysfsTer3
XM_011535117.1:c.3805dup	XP_011533419.1:p.Arg1269LysfsTer3
XM_011535118.1:c.3766dup	XP_011533420.1:p.Arg1256LysfsTer3
XM_011535119.1:c.3718dup	XP_011533421.1:p.Arg1240LysfsTer3
XM_011535120.1:c.3487dup	XP_011533422.1:p.Arg1163LysfsTer3
XM_011535121.1:c.3388dup	XP_011533423.1:p.Arg1130LysfsTer3
XM_011535122.1:c.2569dup	XP_011533424.1:p.Arg857LysfsTer3
XR_941601.1:n.4120dup
XR_941602.1:n.4120dup
XR_941603.1:n.4120dup
XR_941604.1:n.4120dup
NM_001330578.1:c.3667dup	NP_001317507.1:p.Arg1223LysfsTer3
NM_001330579.1:c.3649dup	NP_001317508.1:p.Arg1217LysfsTer3
XM_005266424.4:c.3805dup	XP_005266481.1:p.Arg1269LysfsTer3
XM_005266430.4:c.3901dup	XP_005266487.1:p.Arg1301LysfsTer3
XM_005266431.4:c.3865dup	XP_005266488.1:p.Arg1289LysfsTer3
XM_006719837.3:c.3805dup	XP_006719900.1:p.Arg1269LysfsTer3
XM_011535117.3:c.3805dup	XP_011533419.1:p.Arg1269LysfsTer3
XM_017020627.1:c.3805dup	XP_016876116.1:p.Arg1269LysfsTer3
NM_000053.4:c.3901dup MANE Select	NP_000044.2:p.Arg1301LysfsTer3
NM_001005918.3:c.3280dup	NP_001005918.1:p.Arg1094LysfsTer3
NM_001330579.2:c.3649dup	NP_001317508.1:p.Arg1217LysfsTer3
NM_001243182.2:c.3568dup	NP_001230111.1:p.Arg1190LysfsTer3
NM_001330578.2:c.3667dup	NP_001317507.1:p.Arg1223LysfsTer3