Canonical Allele Identifier: CA2739277631

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2847882
• ClinVar RCV Id: RCV003608882

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51970481_51970484dup , CM000675.2:g.51970481_51970484dup	GRCh38
NC_000013.10:g.52544617_52544620dup , CM000675.1:g.52544617_52544620dup	GRCh37
NC_000013.9:g.51442618_51442621dup	NCBI36
NG_008806.1:g.46012_46015dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1543+9_1543+12dup	ENSP00000489512.2:n.1543+9_1543+12dup
ENST00000673864.2:c.*287+9_*287+12dup	ENSP00000501045.2:n.*287+9_*287+12dup
ENST00000674147.2:c.1543+9_1543+12dup	ENSP00000500964.2:n.1543+9_1543+12dup
ENST00000242839.10:c.1543+9_1543+12dup MANE Select	ENSP00000242839.5:n.1543+9_1543+12dup
ENST00000344297.9:c.1543+9_1543+12dup	ENSP00000342559.5:n.1543+9_1543+12dup
ENST00000400366.6:c.1210+9_1210+12dup	ENSP00000383217.3:n.1210+9_1210+12dup
ENST00000448424.7:c.1543+9_1543+12dup	ENSP00000416738.3:n.1543+9_1543+12dup
ENST00000483772.2:n.299+9_299+12dup
ENST00000673772.1:c.1543+9_1543+12dup	ENSP00000501168.1:n.1543+9_1543+12dup
ENST00000673789.1:n.499+9_499+12dup
ENST00000673864.1:c.737+9_737+12dup	ENSP00000501045.1:n.737+9_737+12dup
ENST00000674078.1:n.1653_1656dup
ENST00000674147.1:c.1099+9_1099+12dup	ENSP00000500964.1:n.1099+9_1099+12dup
ENST00000242839.8:c.1543+9_1543+12dup	ENSP00000242839.4:n.1543+9_1543+12dup
ENST00000344297.8:c.1543+9_1543+12dup	ENSP00000342559.5:n.1543+9_1543+12dup
ENST00000400366.5:c.1210+9_1210+12dup	ENSP00000383217.3:n.1210+9_1210+12dup
ENST00000400370.8:c.1285+3452_1285+3455dup	ENSP00000383221.3:n.1285+3452_1285+3455dup
ENST00000418097.7:c.1543+9_1543+12dup	ENSP00000393343.2:n.1543+9_1543+12dup
ENST00000448424.6:c.1543+9_1543+12dup	ENSP00000416738.2:n.1543+9_1543+12dup
ENST00000482841.6:n.1664+9_1664+12dup
ENST00000483772.1:n.299+9_299+12dup
ENST00000634308.1:c.1543+9_1543+12dup	ENSP00000489234.1:n.1543+9_1543+12dup
ENST00000634620.1:n.35+9_35+12dup
ENST00000634844.1:c.1543+9_1543+12dup	ENSP00000489398.1:n.1543+9_1543+12dup
ENST00000635406.1:n.212-24005_212-24002dup
NM_000053.3:c.1543+9_1543+12dup	NP_000044.2:n.1543+9_1543+12dup
NM_001005918.2:c.1543+9_1543+12dup	NP_001005918.1:n.1543+9_1543+12dup
NM_001243182.1:c.1210+9_1210+12dup	NP_001230111.1:n.1210+9_1210+12dup
XM_005266423.2:c.1447+9_1447+12dup	XP_005266480.1:n.1447+9_1447+12dup
XM_005266424.3:c.1447+9_1447+12dup	XP_005266481.1:n.1447+9_1447+12dup
XM_005266427.2:c.1543+9_1543+12dup	XP_005266484.1:n.1543+9_1543+12dup
XM_005266428.1:c.1543+9_1543+12dup	XP_005266485.1:n.1543+9_1543+12dup
XM_005266430.3:c.1543+9_1543+12dup	XP_005266487.1:n.1543+9_1543+12dup
XM_005266431.2:c.1507+9_1507+12dup	XP_005266488.1:n.1507+9_1507+12dup
XM_005266432.2:c.1543+9_1543+12dup	XP_005266489.1:n.1543+9_1543+12dup
XM_006719837.2:c.1447+9_1447+12dup	XP_006719900.1:n.1447+9_1447+12dup
XM_011535117.1:c.1447+9_1447+12dup	XP_011533419.1:n.1447+9_1447+12dup
XM_011535118.1:c.1543+9_1543+12dup	XP_011533420.1:n.1543+9_1543+12dup
XM_011535119.1:c.1543+9_1543+12dup	XP_011533421.1:n.1543+9_1543+12dup
XM_011535120.1:c.1543+9_1543+12dup	XP_011533422.1:n.1543+9_1543+12dup
XM_011535121.1:c.1543+9_1543+12dup	XP_011533423.1:n.1543+9_1543+12dup
XM_011535122.1:c.211+9_211+12dup	XP_011533424.1:n.211+9_211+12dup
XR_941601.1:n.1762+9_1762+12dup
XR_941602.1:n.1762+9_1762+12dup
XR_941603.1:n.1762+9_1762+12dup
XR_941604.1:n.1762+9_1762+12dup
NM_001330578.1:c.1543+9_1543+12dup	NP_001317507.1:n.1543+9_1543+12dup
NM_001330579.1:c.1543+9_1543+12dup	NP_001317508.1:n.1543+9_1543+12dup
XM_005266424.4:c.1447+9_1447+12dup	XP_005266481.1:n.1447+9_1447+12dup
XM_005266430.4:c.1543+9_1543+12dup	XP_005266487.1:n.1543+9_1543+12dup
XM_005266431.4:c.1507+9_1507+12dup	XP_005266488.1:n.1507+9_1507+12dup
XM_006719837.3:c.1447+9_1447+12dup	XP_006719900.1:n.1447+9_1447+12dup
XM_011535117.3:c.1447+9_1447+12dup	XP_011533419.1:n.1447+9_1447+12dup
XM_017020627.1:c.1447+9_1447+12dup	XP_016876116.1:n.1447+9_1447+12dup
NM_000053.4:c.1543+9_1543+12dup MANE Select	NP_000044.2:n.1543+9_1543+12dup
NM_001005918.3:c.1543+9_1543+12dup	NP_001005918.1:n.1543+9_1543+12dup
NM_001330579.2:c.1543+9_1543+12dup	NP_001317508.1:n.1543+9_1543+12dup
NM_001243182.2:c.1210+9_1210+12dup	NP_001230111.1:n.1210+9_1210+12dup
NM_001330578.2:c.1543+9_1543+12dup	NP_001317507.1:n.1543+9_1543+12dup