Canonical Allele Identifier: CA2580087652

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2436002
• ClinVar RCV Id: RCV003136752

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944163dup , CM000675.2:g.51944163dup	GRCh38
NC_000013.10:g.52518299dup , CM000675.1:g.52518299dup	GRCh37
NC_000013.9:g.51416300dup	NCBI36
NG_008806.1:g.72333dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1608dup	ENSP00000489512.2:n.*894-1608dup
ENST00000673864.2:c.*1934dup	ENSP00000501045.2:n.*1934dup
ENST00000674147.2:c.2569dup	ENSP00000500964.2:p.Glu857GlyfsTer5
ENST00000242839.10:c.3190dup MANE Select	ENSP00000242839.5:p.Glu1064GlyfsTer5
ENST00000344297.9:c.2569dup	ENSP00000342559.5:p.Glu857GlyfsTer5
ENST00000400366.6:c.2857dup	ENSP00000383217.3:p.Glu953GlyfsTer5
ENST00000448424.7:c.2938dup	ENSP00000416738.3:p.Glu980GlyfsTer5
ENST00000673772.1:c.2956dup	ENSP00000501168.1:p.Glu986GlyfsTer5
ENST00000673867.1:n.3329dup
ENST00000674126.1:n.3553dup
ENST00000674147.1:c.2125dup	ENSP00000500964.1:p.Glu709GlyfsTer5
ENST00000242839.8:c.3190dup	ENSP00000242839.4:p.Glu1064GlyfsTer5
ENST00000344297.8:c.2569dup	ENSP00000342559.5:p.Glu857GlyfsTer5
ENST00000400366.5:c.2857dup	ENSP00000383217.3:p.Glu953GlyfsTer5
ENST00000400370.8:c.1900dup	ENSP00000383221.3:p.Glu634GlyfsTer5
ENST00000418097.7:c.2995dup	ENSP00000393343.2:p.Glu999GlyfsTer5
ENST00000448424.6:c.2956dup	ENSP00000416738.2:p.Glu986GlyfsTer5
ENST00000466629.1:n.410dup
ENST00000634296.1:c.1022-1608dup
ENST00000634308.1:c.*291dup	ENSP00000489234.1:n.*291dup
ENST00000634620.1:n.3934dup
ENST00000634810.1:n.2535dup
ENST00000634844.1:c.3046dup	ENSP00000489398.1:p.Glu1016GlyfsTer5
NM_000053.3:c.3190dup	NP_000044.2:p.Glu1064GlyfsTer5
NM_001005918.2:c.2569dup	NP_001005918.1:p.Glu857GlyfsTer5
NM_001243182.1:c.2857dup	NP_001230111.1:p.Glu953GlyfsTer5
XM_005266423.2:c.3094dup	XP_005266480.1:p.Glu1032GlyfsTer5
XM_005266424.3:c.3094dup	XP_005266481.1:p.Glu1032GlyfsTer5
XM_005266427.2:c.2956dup	XP_005266484.1:p.Glu986GlyfsTer5
XM_005266428.1:c.2938dup	XP_005266485.1:p.Glu980GlyfsTer5
XM_005266430.3:c.3190dup	XP_005266487.1:p.Glu1064GlyfsTer5
XM_005266431.2:c.3154dup	XP_005266488.1:p.Glu1052GlyfsTer5
XM_005266432.2:c.2704dup	XP_005266489.1:p.Glu902GlyfsTer5
XM_006719837.2:c.3094dup	XP_006719900.1:p.Glu1032GlyfsTer5
XM_006719838.1:c.1006dup	XP_006719901.1:p.Glu336GlyfsTer5
XM_006719839.1:c.877-1608dup	XP_006719902.1:n.877-1608dup
XM_011535117.1:c.3094dup	XP_011533419.1:p.Glu1032GlyfsTer5
XM_011535118.1:c.3055dup	XP_011533420.1:p.Glu1019GlyfsTer5
XM_011535119.1:c.3061-1608dup	XP_011533421.1:n.3061-1608dup
XM_011535120.1:c.2776dup	XP_011533422.1:p.Glu926GlyfsTer5
XM_011535121.1:c.2731-1608dup	XP_011533423.1:n.2731-1608dup
XM_011535122.1:c.1858dup	XP_011533424.1:p.Glu620GlyfsTer5
XR_941601.1:n.3409dup
XR_941602.1:n.3409dup
XR_941603.1:n.3409dup
XR_941604.1:n.3409dup
NM_001330578.1:c.2956dup	NP_001317507.1:p.Glu986GlyfsTer5
NM_001330579.1:c.2938dup	NP_001317508.1:p.Glu980GlyfsTer5
XM_005266424.4:c.3094dup	XP_005266481.1:p.Glu1032GlyfsTer5
XM_005266430.4:c.3190dup	XP_005266487.1:p.Glu1064GlyfsTer5
XM_005266431.4:c.3154dup	XP_005266488.1:p.Glu1052GlyfsTer5
XM_006719837.3:c.3094dup	XP_006719900.1:p.Glu1032GlyfsTer5
XM_011535117.3:c.3094dup	XP_011533419.1:p.Glu1032GlyfsTer5
XM_017020627.1:c.3094dup	XP_016876116.1:p.Glu1032GlyfsTer5
NM_000053.4:c.3190dup MANE Select	NP_000044.2:p.Glu1064GlyfsTer5
NM_001005918.3:c.2569dup	NP_001005918.1:p.Glu857GlyfsTer5
NM_001330579.2:c.2938dup	NP_001317508.1:p.Glu980GlyfsTer5
NM_001243182.2:c.2857dup	NP_001230111.1:p.Glu953GlyfsTer5
NM_001330578.2:c.2956dup	NP_001317507.1:p.Glu986GlyfsTer5