Canonical Allele Identifier: CA2740097673

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3012232
• ClinVar RCV Id: RCV003875359

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958405_51958412dup , CM000675.2:g.51958405_51958412dup	GRCh38
NC_000013.10:g.52532541_52532548dup , CM000675.1:g.52532541_52532548dup	GRCh37
NC_000013.9:g.51430542_51430549dup	NCBI36
NG_008806.1:g.58084_58091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*88_*95dup	ENSP00000489512.2:n.*88_*95dup
ENST00000673864.2:c.*999_*1006dup	ENSP00000501045.2:n.*999_*1006dup
ENST00000674147.2:c.1870-804_1870-797dup	ENSP00000500964.2:n.1870-804_1870-797dup
ENST00000242839.10:c.2255_2262dup MANE Select	ENSP00000242839.5:p.Lys755TrpfsTer10
ENST00000344297.9:c.1870-804_1870-797dup	ENSP00000342559.5:n.1870-804_1870-797dup
ENST00000400366.6:c.1922_1929dup	ENSP00000383217.3:p.Lys644TrpfsTer10
ENST00000448424.7:c.2003_2010dup	ENSP00000416738.3:p.Lys671TrpfsTer10
ENST00000673772.1:c.2122-804_2122-797dup	ENSP00000501168.1:n.2122-804_2122-797dup
ENST00000674147.1:c.1426-804_1426-797dup	ENSP00000500964.1:n.1426-804_1426-797dup
ENST00000242839.8:c.2255_2262dup	ENSP00000242839.4:p.Lys755TrpfsTer10
ENST00000344297.8:c.1870-804_1870-797dup	ENSP00000342559.5:n.1870-804_1870-797dup
ENST00000400366.5:c.1922_1929dup	ENSP00000383217.3:p.Lys644TrpfsTer10
ENST00000400370.8:c.1286-8250_1286-8243dup	ENSP00000383221.3:n.1286-8250_1286-8243dup
ENST00000418097.7:c.2255_2262dup	ENSP00000393343.2:p.Lys755TrpfsTer10
ENST00000448424.6:c.2122-804_2122-797dup	ENSP00000416738.2:n.2122-804_2122-797dup
ENST00000482841.6:n.1798_1805dup
ENST00000634296.1:c.216_223dup
ENST00000634308.1:c.2122-804_2122-797dup	ENSP00000489234.1:n.2122-804_2122-797dup
ENST00000634620.1:n.2350_2357dup
ENST00000634810.1:n.1600_1607dup
ENST00000634844.1:c.2122-11_2122-4dup	ENSP00000489398.1:n.2122-11_2122-4dup
ENST00000635406.1:n.212-11933_212-11926dup
NM_000053.3:c.2255_2262dup	NP_000044.2:p.Lys755TrpfsTer10
NM_001005918.2:c.1870-804_1870-797dup	NP_001005918.1:n.1870-804_1870-797dup
NM_001243182.1:c.1922_1929dup	NP_001230111.1:p.Lys644TrpfsTer10
XM_005266423.2:c.2159_2166dup	XP_005266480.1:p.Lys723TrpfsTer10
XM_005266424.3:c.2159_2166dup	XP_005266481.1:p.Lys723TrpfsTer10
XM_005266427.2:c.2122-804_2122-797dup	XP_005266484.1:n.2122-804_2122-797dup
XM_005266428.1:c.2003_2010dup	XP_005266485.1:p.Lys671TrpfsTer10
XM_005266430.3:c.2255_2262dup	XP_005266487.1:p.Lys755TrpfsTer10
XM_005266431.2:c.2219_2226dup	XP_005266488.1:p.Lys743TrpfsTer10
XM_005266432.2:c.1870-804_1870-797dup	XP_005266489.1:n.1870-804_1870-797dup
XM_006719837.2:c.2159_2166dup	XP_006719900.1:p.Lys723TrpfsTer10
XM_006719838.1:c.71_78dup	XP_006719901.1:p.Lys27TrpfsTer10
XM_006719839.1:c.71_78dup	XP_006719902.1:p.Lys27TrpfsTer10
XM_011535117.1:c.2159_2166dup	XP_011533419.1:p.Lys723TrpfsTer10
XM_011535118.1:c.2255_2262dup	XP_011533420.1:p.Lys755TrpfsTer10
XM_011535119.1:c.2255_2262dup	XP_011533421.1:p.Lys755TrpfsTer10
XM_011535120.1:c.1841_1848dup	XP_011533422.1:p.Lys617TrpfsTer10
XM_011535121.1:c.2255_2262dup	XP_011533423.1:p.Lys755TrpfsTer10
XM_011535122.1:c.923_930dup	XP_011533424.1:p.Lys311TrpfsTer10
XR_941601.1:n.2474_2481dup
XR_941602.1:n.2474_2481dup
XR_941603.1:n.2474_2481dup
XR_941604.1:n.2474_2481dup
NM_001330578.1:c.2122-804_2122-797dup	NP_001317507.1:n.2122-804_2122-797dup
NM_001330579.1:c.2003_2010dup	NP_001317508.1:p.Lys671TrpfsTer10
XM_005266424.4:c.2159_2166dup	XP_005266481.1:p.Lys723TrpfsTer10
XM_005266430.4:c.2255_2262dup	XP_005266487.1:p.Lys755TrpfsTer10
XM_005266431.4:c.2219_2226dup	XP_005266488.1:p.Lys743TrpfsTer10
XM_006719837.3:c.2159_2166dup	XP_006719900.1:p.Lys723TrpfsTer10
XM_011535117.3:c.2159_2166dup	XP_011533419.1:p.Lys723TrpfsTer10
XM_017020627.1:c.2159_2166dup	XP_016876116.1:p.Lys723TrpfsTer10
NM_000053.4:c.2255_2262dup MANE Select	NP_000044.2:p.Lys755TrpfsTer10
NM_001005918.3:c.1870-804_1870-797dup	NP_001005918.1:n.1870-804_1870-797dup
NM_001330579.2:c.2003_2010dup	NP_001317508.1:p.Lys671TrpfsTer10
NM_001243182.2:c.1922_1929dup	NP_001230111.1:p.Lys644TrpfsTer10
NM_001330578.2:c.2122-804_2122-797dup	NP_001317507.1:n.2122-804_2122-797dup