Canonical Allele Identifier: CA2695218767
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946413dup , CM000675.2:g.51946413dup GRCh38
NC_000013.10:g.52520549dup , CM000675.1:g.52520549dup GRCh37
NC_000013.9:g.51418550dup NCBI36
NG_008806.1:g.70083dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*765dup ENSP00000489512.2:n.*765dup
ENST00000673864.2:c.*1676dup ENSP00000501045.2:n.*1676dup
ENST00000674147.2:c.2311dup ENSP00000500964.2:p.Val771GlyfsTer?
ENST00000242839.10:c.2932dup MANE Select ENSP00000242839.5:p.Val978GlyfsTer?
ENST00000344297.9:c.2311dup ENSP00000342559.5:p.Val771GlyfsTer?
ENST00000400366.6:c.2599dup ENSP00000383217.3:p.Val867GlyfsTer?
ENST00000448424.7:c.2680dup ENSP00000416738.3:p.Val894GlyfsTer?
ENST00000673772.1:c.2698dup ENSP00000501168.1:p.Val900GlyfsTer?
ENST00000673867.1:n.1079dup
ENST00000674126.1:n.3295dup
ENST00000674147.1:c.1867dup ENSP00000500964.1:p.Val623GlyfsTer?
ENST00000242839.8:c.2932dup ENSP00000242839.4:p.Val978GlyfsTer?
ENST00000344297.8:c.2311dup ENSP00000342559.5:p.Val771GlyfsTer?
ENST00000400366.5:c.2599dup ENSP00000383217.3:p.Val867GlyfsTer?
ENST00000400370.8:c.1642dup ENSP00000383221.3:p.Val548GlyfsTer?
ENST00000418097.7:c.2866-2121dup ENSP00000393343.2:n.2866-2121dup
ENST00000448424.6:c.2698dup ENSP00000416738.2:p.Val900GlyfsTer?
ENST00000466629.1:n.152dup
ENST00000634296.1:c.893dup
ENST00000634308.1:c.*33dup ENSP00000489234.1:n.*33dup
ENST00000634620.1:n.3676dup
ENST00000634810.1:n.2277dup
ENST00000634844.1:c.2788dup ENSP00000489398.1:p.Val930GlyfsTer?
ENST00000635406.1:n.278dup
NM_000053.3:c.2932dup NP_000044.2:p.Val978GlyfsTer?
NM_001005918.2:c.2311dup NP_001005918.1:p.Val771GlyfsTer?
NM_001243182.1:c.2599dup NP_001230111.1:p.Val867GlyfsTer?
XM_005266423.2:c.2836dup XP_005266480.1:p.Val946GlyfsTer?
XM_005266424.3:c.2836dup XP_005266481.1:p.Val946GlyfsTer?
XM_005266427.2:c.2698dup XP_005266484.1:p.Val900GlyfsTer?
XM_005266428.1:c.2680dup XP_005266485.1:p.Val894GlyfsTer?
XM_005266430.3:c.2932dup XP_005266487.1:p.Val978GlyfsTer?
XM_005266431.2:c.2896dup XP_005266488.1:p.Val966GlyfsTer?
XM_005266432.2:c.2446dup XP_005266489.1:p.Val816GlyfsTer?
XM_006719837.2:c.2836dup XP_006719900.1:p.Val946GlyfsTer?
XM_006719838.1:c.748dup XP_006719901.1:p.Val250GlyfsTer?
XM_006719839.1:c.748dup XP_006719902.1:p.Val250GlyfsTer?
XM_011535117.1:c.2836dup XP_011533419.1:p.Val946GlyfsTer?
XM_011535118.1:c.2797dup XP_011533420.1:p.Val933GlyfsTer?
XM_011535119.1:c.2932dup XP_011533421.1:p.Val978GlyfsTer?
XM_011535120.1:c.2518dup XP_011533422.1:p.Val840GlyfsTer?
XM_011535121.1:c.2730+3595dup XP_011533423.1:n.2730+3595dup
XM_011535122.1:c.1600dup XP_011533424.1:p.Val534GlyfsTer?
XR_941601.1:n.3151dup
XR_941602.1:n.3151dup
XR_941603.1:n.3151dup
XR_941604.1:n.3151dup
NM_001330578.1:c.2698dup NP_001317507.1:p.Val900GlyfsTer?
NM_001330579.1:c.2680dup NP_001317508.1:p.Val894GlyfsTer?
XM_005266424.4:c.2836dup XP_005266481.1:p.Val946GlyfsTer?
XM_005266430.4:c.2932dup XP_005266487.1:p.Val978GlyfsTer?
XM_005266431.4:c.2896dup XP_005266488.1:p.Val966GlyfsTer?
XM_006719837.3:c.2836dup XP_006719900.1:p.Val946GlyfsTer?
XM_011535117.3:c.2836dup XP_011533419.1:p.Val946GlyfsTer?
XM_017020627.1:c.2836dup XP_016876116.1:p.Val946GlyfsTer?
NM_000053.4:c.2932dup MANE Select NP_000044.2:p.Val978GlyfsTer?
NM_001005918.3:c.2311dup NP_001005918.1:p.Val771GlyfsTer?
NM_001330579.2:c.2680dup NP_001317508.1:p.Val894GlyfsTer?
NM_001243182.2:c.2599dup NP_001230111.1:p.Val867GlyfsTer?
NM_001330578.2:c.2698dup NP_001317507.1:p.Val900GlyfsTer?