Canonical Allele Identifier: CA1139663304

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 917567
• ClinVar RCV Id: RCV001174602
• dbSNP Id: rs1957654399
• gnomAD v4: 13-51946346-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946348dup , CM000675.2:g.51946348dup	GRCh38
NC_000013.10:g.52520484dup , CM000675.1:g.52520484dup	GRCh37
NC_000013.9:g.51418485dup	NCBI36
NG_008806.1:g.70148dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*830dup	ENSP00000489512.2:n.*830dup
ENST00000673864.2:c.*1741dup	ENSP00000501045.2:n.*1741dup
ENST00000674147.2:c.2376dup	ENSP00000500964.2:p.Gly793ArgfsTer28
ENST00000242839.10:c.2997dup MANE Select	ENSP00000242839.5:p.Gly1000ArgfsTer28
ENST00000344297.9:c.2376dup	ENSP00000342559.5:p.Gly793ArgfsTer28
ENST00000400366.6:c.2664dup	ENSP00000383217.3:p.Gly889ArgfsTer28
ENST00000448424.7:c.2745dup	ENSP00000416738.3:p.Gly916ArgfsTer28
ENST00000673772.1:c.2763dup	ENSP00000501168.1:p.Gly922ArgfsTer28
ENST00000673867.1:n.1144dup
ENST00000674126.1:n.3360dup
ENST00000674147.1:c.1932dup	ENSP00000500964.1:p.Gly645ArgfsTer28
ENST00000242839.8:c.2997dup	ENSP00000242839.4:p.Gly1000ArgfsTer28
ENST00000344297.8:c.2376dup	ENSP00000342559.5:p.Gly793ArgfsTer28
ENST00000400366.5:c.2664dup	ENSP00000383217.3:p.Gly889ArgfsTer28
ENST00000400370.8:c.1707dup	ENSP00000383221.3:p.Gly570ArgfsTer28
ENST00000418097.7:c.2866-2056dup	ENSP00000393343.2:n.2866-2056dup
ENST00000448424.6:c.2763dup	ENSP00000416738.2:p.Gly922ArgfsTer28
ENST00000466629.1:n.217dup
ENST00000634296.1:c.958dup
ENST00000634308.1:c.*98dup	ENSP00000489234.1:n.*98dup
ENST00000634620.1:n.3741dup
ENST00000634810.1:n.2342dup
ENST00000634844.1:c.2853dup	ENSP00000489398.1:p.Gly952ArgfsTer28
ENST00000635406.1:n.343dup
NM_000053.3:c.2997dup	NP_000044.2:p.Gly1000ArgfsTer28
NM_001005918.2:c.2376dup	NP_001005918.1:p.Gly793ArgfsTer28
NM_001243182.1:c.2664dup	NP_001230111.1:p.Gly889ArgfsTer28
XM_005266423.2:c.2901dup	XP_005266480.1:p.Gly968ArgfsTer28
XM_005266424.3:c.2901dup	XP_005266481.1:p.Gly968ArgfsTer28
XM_005266427.2:c.2763dup	XP_005266484.1:p.Gly922ArgfsTer28
XM_005266428.1:c.2745dup	XP_005266485.1:p.Gly916ArgfsTer28
XM_005266430.3:c.2997dup	XP_005266487.1:p.Gly1000ArgfsTer28
XM_005266431.2:c.2961dup	XP_005266488.1:p.Gly988ArgfsTer28
XM_005266432.2:c.2511dup	XP_005266489.1:p.Gly838ArgfsTer28
XM_006719837.2:c.2901dup	XP_006719900.1:p.Gly968ArgfsTer28
XM_006719838.1:c.813dup	XP_006719901.1:p.Gly272ArgfsTer28
XM_006719839.1:c.813dup	XP_006719902.1:p.Gly272ArgfsTer?
XM_011535117.1:c.2901dup	XP_011533419.1:p.Gly968ArgfsTer28
XM_011535118.1:c.2862dup	XP_011533420.1:p.Gly955ArgfsTer28
XM_011535119.1:c.2997dup	XP_011533421.1:p.Gly1000ArgfsTer?
XM_011535120.1:c.2583dup	XP_011533422.1:p.Gly862ArgfsTer28
XM_011535121.1:c.2730+3660dup	XP_011533423.1:n.2730+3660dup
XM_011535122.1:c.1665dup	XP_011533424.1:p.Gly556ArgfsTer28
XR_941601.1:n.3216dup
XR_941602.1:n.3216dup
XR_941603.1:n.3216dup
XR_941604.1:n.3216dup
NM_001330578.1:c.2763dup	NP_001317507.1:p.Gly922ArgfsTer28
NM_001330579.1:c.2745dup	NP_001317508.1:p.Gly916ArgfsTer28
XM_005266424.4:c.2901dup	XP_005266481.1:p.Gly968ArgfsTer28
XM_005266430.4:c.2997dup	XP_005266487.1:p.Gly1000ArgfsTer28
XM_005266431.4:c.2961dup	XP_005266488.1:p.Gly988ArgfsTer28
XM_006719837.3:c.2901dup	XP_006719900.1:p.Gly968ArgfsTer28
XM_011535117.3:c.2901dup	XP_011533419.1:p.Gly968ArgfsTer28
XM_017020627.1:c.2901dup	XP_016876116.1:p.Gly968ArgfsTer28
NM_000053.4:c.2997dup MANE Select	NP_000044.2:p.Gly1000ArgfsTer28
NM_001005918.3:c.2376dup	NP_001005918.1:p.Gly793ArgfsTer28
NM_001330579.2:c.2745dup	NP_001317508.1:p.Gly916ArgfsTer28
NM_001243182.2:c.2664dup	NP_001230111.1:p.Gly889ArgfsTer28
NM_001330578.2:c.2763dup	NP_001317507.1:p.Gly922ArgfsTer28