Canonical Allele Identifier: CA912974797

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518330dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944194dup , CM000675.2:g.51944194dup	GRCh38
NC_000013.10:g.52518330dup , CM000675.1:g.52518330dup	GRCh37
NC_000013.9:g.51416331dup	NCBI36
NG_008806.1:g.72301dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1640dup	ENSP00000489512.2:n.*894-1640dup
ENST00000673864.2:c.*1902dup	ENSP00000501045.2:n.*1902dup
ENST00000674147.2:c.2537dup	ENSP00000500964.2:p.Arg847GlnfsTer15
ENST00000242839.10:c.3158dup MANE Select	ENSP00000242839.5:p.Arg1054GlnfsTer15
ENST00000344297.9:c.2537dup	ENSP00000342559.5:p.Arg847GlnfsTer15
ENST00000400366.6:c.2825dup	ENSP00000383217.3:p.Arg943GlnfsTer15
ENST00000448424.7:c.2906dup	ENSP00000416738.3:p.Arg970GlnfsTer15
ENST00000673772.1:c.2924dup	ENSP00000501168.1:p.Arg976GlnfsTer15
ENST00000673867.1:n.3297dup
ENST00000674126.1:n.3521dup
ENST00000674147.1:c.2093dup	ENSP00000500964.1:p.Arg699GlnfsTer15
ENST00000242839.8:c.3158dup	ENSP00000242839.4:p.Arg1054GlnfsTer15
ENST00000344297.8:c.2537dup	ENSP00000342559.5:p.Arg847GlnfsTer15
ENST00000400366.5:c.2825dup	ENSP00000383217.3:p.Arg943GlnfsTer15
ENST00000400370.8:c.1868dup	ENSP00000383221.3:p.Arg624GlnfsTer15
ENST00000418097.7:c.2963dup	ENSP00000393343.2:p.Arg989GlnfsTer15
ENST00000448424.6:c.2924dup	ENSP00000416738.2:p.Arg976GlnfsTer15
ENST00000466629.1:n.378dup
ENST00000634296.1:c.1022-1640dup
ENST00000634308.1:c.*259dup	ENSP00000489234.1:n.*259dup
ENST00000634620.1:n.3902dup
ENST00000634810.1:n.2503dup
ENST00000634844.1:c.3014dup	ENSP00000489398.1:p.Arg1006GlnfsTer15
ENST00000635406.1:n.504dup
NM_000053.3:c.3158dup	NP_000044.2:p.Arg1054GlnfsTer15
NM_001005918.2:c.2537dup	NP_001005918.1:p.Arg847GlnfsTer15
NM_001243182.1:c.2825dup	NP_001230111.1:p.Arg943GlnfsTer15
XM_005266423.2:c.3062dup	XP_005266480.1:p.Arg1022GlnfsTer15
XM_005266424.3:c.3062dup	XP_005266481.1:p.Arg1022GlnfsTer15
XM_005266427.2:c.2924dup	XP_005266484.1:p.Arg976GlnfsTer15
XM_005266428.1:c.2906dup	XP_005266485.1:p.Arg970GlnfsTer15
XM_005266430.3:c.3158dup	XP_005266487.1:p.Arg1054GlnfsTer15
XM_005266431.2:c.3122dup	XP_005266488.1:p.Arg1042GlnfsTer15
XM_005266432.2:c.2672dup	XP_005266489.1:p.Arg892GlnfsTer15
XM_006719837.2:c.3062dup	XP_006719900.1:p.Arg1022GlnfsTer15
XM_006719838.1:c.974dup	XP_006719901.1:p.Arg326GlnfsTer15
XM_006719839.1:c.877-1640dup	XP_006719902.1:n.877-1640dup
XM_011535117.1:c.3062dup	XP_011533419.1:p.Arg1022GlnfsTer15
XM_011535118.1:c.3023dup	XP_011533420.1:p.Arg1009GlnfsTer15
XM_011535119.1:c.3061-1640dup	XP_011533421.1:n.3061-1640dup
XM_011535120.1:c.2744dup	XP_011533422.1:p.Arg916GlnfsTer15
XM_011535121.1:c.2731-1640dup	XP_011533423.1:n.2731-1640dup
XM_011535122.1:c.1826dup	XP_011533424.1:p.Arg610GlnfsTer15
XR_941601.1:n.3377dup
XR_941602.1:n.3377dup
XR_941603.1:n.3377dup
XR_941604.1:n.3377dup
NM_001330578.1:c.2924dup	NP_001317507.1:p.Arg976GlnfsTer15
NM_001330579.1:c.2906dup	NP_001317508.1:p.Arg970GlnfsTer15
XM_005266424.4:c.3062dup	XP_005266481.1:p.Arg1022GlnfsTer15
XM_005266430.4:c.3158dup	XP_005266487.1:p.Arg1054GlnfsTer15
XM_005266431.4:c.3122dup	XP_005266488.1:p.Arg1042GlnfsTer15
XM_006719837.3:c.3062dup	XP_006719900.1:p.Arg1022GlnfsTer15
XM_011535117.3:c.3062dup	XP_011533419.1:p.Arg1022GlnfsTer15
XM_017020627.1:c.3062dup	XP_016876116.1:p.Arg1022GlnfsTer15
NM_000053.4:c.3158dup MANE Select	NP_000044.2:p.Arg1054GlnfsTer15
NM_001005918.3:c.2537dup	NP_001005918.1:p.Arg847GlnfsTer15
NM_001330579.2:c.2906dup	NP_001317508.1:p.Arg970GlnfsTer15
NM_001243182.2:c.2825dup	NP_001230111.1:p.Arg943GlnfsTer15
NM_001330578.2:c.2924dup	NP_001317507.1:p.Arg976GlnfsTer15