Canonical Allele Identifier: CA2739277656

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2861532
• ClinVar RCV Id: RCV003609092

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944230dup , CM000675.2:g.51944230dup	GRCh38
NC_000013.10:g.52518366dup , CM000675.1:g.52518366dup	GRCh37
NC_000013.9:g.51416367dup	NCBI36
NG_008806.1:g.72267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1674dup	ENSP00000489512.2:n.*894-1674dup
ENST00000673864.2:c.*1868dup	ENSP00000501045.2:n.*1868dup
ENST00000674147.2:c.2503dup	ENSP00000500964.2:p.Val835GlyfsTer27
ENST00000242839.10:c.3124dup MANE Select	ENSP00000242839.5:p.Val1042GlyfsTer27
ENST00000344297.9:c.2503dup	ENSP00000342559.5:p.Val835GlyfsTer27
ENST00000400366.6:c.2791dup	ENSP00000383217.3:p.Val931GlyfsTer27
ENST00000448424.7:c.2872dup	ENSP00000416738.3:p.Val958GlyfsTer27
ENST00000673772.1:c.2890dup	ENSP00000501168.1:p.Val964GlyfsTer27
ENST00000673867.1:n.3263dup
ENST00000674126.1:n.3487dup
ENST00000674147.1:c.2059dup	ENSP00000500964.1:p.Val687GlyfsTer27
ENST00000242839.8:c.3124dup	ENSP00000242839.4:p.Val1042GlyfsTer27
ENST00000344297.8:c.2503dup	ENSP00000342559.5:p.Val835GlyfsTer27
ENST00000400366.5:c.2791dup	ENSP00000383217.3:p.Val931GlyfsTer27
ENST00000400370.8:c.1834dup	ENSP00000383221.3:p.Val612GlyfsTer27
ENST00000418097.7:c.2929dup	ENSP00000393343.2:p.Val977GlyfsTer27
ENST00000448424.6:c.2890dup	ENSP00000416738.2:p.Val964GlyfsTer27
ENST00000466629.1:n.344dup
ENST00000634296.1:c.1022-1674dup
ENST00000634308.1:c.*225dup	ENSP00000489234.1:n.*225dup
ENST00000634620.1:n.3868dup
ENST00000634810.1:n.2469dup
ENST00000634844.1:c.2980dup	ENSP00000489398.1:p.Val994GlyfsTer27
ENST00000635406.1:n.470dup
NM_000053.3:c.3124dup	NP_000044.2:p.Val1042GlyfsTer27
NM_001005918.2:c.2503dup	NP_001005918.1:p.Val835GlyfsTer27
NM_001243182.1:c.2791dup	NP_001230111.1:p.Val931GlyfsTer27
XM_005266423.2:c.3028dup	XP_005266480.1:p.Val1010GlyfsTer27
XM_005266424.3:c.3028dup	XP_005266481.1:p.Val1010GlyfsTer27
XM_005266427.2:c.2890dup	XP_005266484.1:p.Val964GlyfsTer27
XM_005266428.1:c.2872dup	XP_005266485.1:p.Val958GlyfsTer27
XM_005266430.3:c.3124dup	XP_005266487.1:p.Val1042GlyfsTer27
XM_005266431.2:c.3088dup	XP_005266488.1:p.Val1030GlyfsTer27
XM_005266432.2:c.2638dup	XP_005266489.1:p.Val880GlyfsTer27
XM_006719837.2:c.3028dup	XP_006719900.1:p.Val1010GlyfsTer27
XM_006719838.1:c.940dup	XP_006719901.1:p.Val314GlyfsTer27
XM_006719839.1:c.877-1674dup	XP_006719902.1:n.877-1674dup
XM_011535117.1:c.3028dup	XP_011533419.1:p.Val1010GlyfsTer27
XM_011535118.1:c.2989dup	XP_011533420.1:p.Val997GlyfsTer27
XM_011535119.1:c.3061-1674dup	XP_011533421.1:n.3061-1674dup
XM_011535120.1:c.2710dup	XP_011533422.1:p.Val904GlyfsTer27
XM_011535121.1:c.2731-1674dup	XP_011533423.1:n.2731-1674dup
XM_011535122.1:c.1792dup	XP_011533424.1:p.Val598GlyfsTer27
XR_941601.1:n.3343dup
XR_941602.1:n.3343dup
XR_941603.1:n.3343dup
XR_941604.1:n.3343dup
NM_001330578.1:c.2890dup	NP_001317507.1:p.Val964GlyfsTer27
NM_001330579.1:c.2872dup	NP_001317508.1:p.Val958GlyfsTer27
XM_005266424.4:c.3028dup	XP_005266481.1:p.Val1010GlyfsTer27
XM_005266430.4:c.3124dup	XP_005266487.1:p.Val1042GlyfsTer27
XM_005266431.4:c.3088dup	XP_005266488.1:p.Val1030GlyfsTer27
XM_006719837.3:c.3028dup	XP_006719900.1:p.Val1010GlyfsTer27
XM_011535117.3:c.3028dup	XP_011533419.1:p.Val1010GlyfsTer27
XM_017020627.1:c.3028dup	XP_016876116.1:p.Val1010GlyfsTer27
NM_000053.4:c.3124dup MANE Select	NP_000044.2:p.Val1042GlyfsTer27
NM_001005918.3:c.2503dup	NP_001005918.1:p.Val835GlyfsTer27
NM_001330579.2:c.2872dup	NP_001317508.1:p.Val958GlyfsTer27
NM_001243182.2:c.2791dup	NP_001230111.1:p.Val931GlyfsTer27
NM_001330578.2:c.2890dup	NP_001317507.1:p.Val964GlyfsTer27