Canonical Allele Identifier: CA2580087702

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2010494
• ClinVar RCV Id: RCV002834024

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937379_51937383dup , CM000675.2:g.51937379_51937383dup	GRCh38
NC_000013.10:g.52511515_52511519dup , CM000675.1:g.52511515_52511519dup	GRCh37
NC_000013.9:g.51409516_51409520dup	NCBI36
NG_008806.1:g.79112_79116dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1564_*1568dup	ENSP00000489512.2:n.*1564_*1568dup
ENST00000673864.2:c.*2658_*2662dup	ENSP00000501045.2:n.*2658_*2662dup
ENST00000674147.2:c.3293_3297dup	ENSP00000500964.2:p.Val1100TrpfsTer25
ENST00000242839.10:c.3914_3918dup MANE Select	ENSP00000242839.5:p.Val1307TrpfsTer25
ENST00000344297.9:c.3293_3297dup	ENSP00000342559.5:p.Val1100TrpfsTer25
ENST00000400366.6:c.3581_3585dup	ENSP00000383217.3:p.Val1196TrpfsTer25
ENST00000448424.7:c.3662_3666dup	ENSP00000416738.3:p.Val1223TrpfsTer25
ENST00000673696.1:n.1237_1241dup
ENST00000673772.1:c.3680_3684dup	ENSP00000501168.1:p.Val1229TrpfsTer25
ENST00000673867.1:n.4053_4057dup
ENST00000673923.1:n.780_784dup
ENST00000674147.1:c.2849_2853dup	ENSP00000500964.1:p.Val952TrpfsTer25
ENST00000242839.8:c.3914_3918dup	ENSP00000242839.4:p.Val1307TrpfsTer25
ENST00000344297.8:c.3293_3297dup	ENSP00000342559.5:p.Val1100TrpfsTer25
ENST00000400366.5:c.3581_3585dup	ENSP00000383217.3:p.Val1196TrpfsTer25
ENST00000400370.8:c.2624_2628dup	ENSP00000383221.3:p.Val877TrpfsTer25
ENST00000418097.7:c.3719_3723dup	ENSP00000393343.2:p.Val1242TrpfsTer25
ENST00000448424.6:c.3680_3684dup	ENSP00000416738.2:p.Val1229TrpfsTer25
ENST00000634296.1:c.1692_1696dup
ENST00000634308.1:c.*1015_*1019dup	ENSP00000489234.1:n.*1015_*1019dup
ENST00000634620.1:n.4658_4662dup
ENST00000634810.1:n.3259_3263dup
ENST00000634844.1:c.3770_3774dup	ENSP00000489398.1:p.Val1259TrpfsTer25
NM_000053.3:c.3914_3918dup	NP_000044.2:p.Val1307TrpfsTer25
NM_001005918.2:c.3293_3297dup	NP_001005918.1:p.Val1100TrpfsTer25
NM_001243182.1:c.3581_3585dup	NP_001230111.1:p.Val1196TrpfsTer25
XM_005266423.2:c.3818_3822dup	XP_005266480.1:p.Val1275TrpfsTer25
XM_005266424.3:c.3818_3822dup	XP_005266481.1:p.Val1275TrpfsTer25
XM_005266427.2:c.3680_3684dup	XP_005266484.1:p.Val1229TrpfsTer25
XM_005266428.1:c.3662_3666dup	XP_005266485.1:p.Val1223TrpfsTer25
XM_005266430.3:c.3914_3918dup	XP_005266487.1:p.Val1307TrpfsTer25
XM_005266431.2:c.3878_3882dup	XP_005266488.1:p.Val1295TrpfsTer25
XM_005266432.2:c.3428_3432dup	XP_005266489.1:p.Val1145TrpfsTer25
XM_006719837.2:c.3818_3822dup	XP_006719900.1:p.Val1275TrpfsTer25
XM_006719838.1:c.1730_1734dup	XP_006719901.1:p.Val579TrpfsTer25
XM_006719839.1:c.1547_1551dup	XP_006719902.1:p.Val518TrpfsTer25
XM_011535117.1:c.3818_3822dup	XP_011533419.1:p.Val1275TrpfsTer25
XM_011535118.1:c.3779_3783dup	XP_011533420.1:p.Val1262TrpfsTer25
XM_011535119.1:c.3731_3735dup	XP_011533421.1:p.Val1246TrpfsTer25
XM_011535120.1:c.3500_3504dup	XP_011533422.1:p.Val1169TrpfsTer25
XM_011535121.1:c.3401_3405dup	XP_011533423.1:p.Val1136TrpfsTer25
XM_011535122.1:c.2582_2586dup	XP_011533424.1:p.Val863TrpfsTer25
XR_941601.1:n.4133_4137dup
XR_941602.1:n.4133_4137dup
XR_941603.1:n.4133_4137dup
XR_941604.1:n.4133_4137dup
NM_001330578.1:c.3680_3684dup	NP_001317507.1:p.Val1229TrpfsTer25
NM_001330579.1:c.3662_3666dup	NP_001317508.1:p.Val1223TrpfsTer25
XM_005266424.4:c.3818_3822dup	XP_005266481.1:p.Val1275TrpfsTer25
XM_005266430.4:c.3914_3918dup	XP_005266487.1:p.Val1307TrpfsTer25
XM_005266431.4:c.3878_3882dup	XP_005266488.1:p.Val1295TrpfsTer25
XM_006719837.3:c.3818_3822dup	XP_006719900.1:p.Val1275TrpfsTer25
XM_011535117.3:c.3818_3822dup	XP_011533419.1:p.Val1275TrpfsTer25
XM_017020627.1:c.3818_3822dup	XP_016876116.1:p.Val1275TrpfsTer25
NM_000053.4:c.3914_3918dup MANE Select	NP_000044.2:p.Val1307TrpfsTer25
NM_001005918.3:c.3293_3297dup	NP_001005918.1:p.Val1100TrpfsTer25
NM_001330579.2:c.3662_3666dup	NP_001317508.1:p.Val1223TrpfsTer25
NM_001243182.2:c.3581_3585dup	NP_001230111.1:p.Val1196TrpfsTer25
NM_001330578.2:c.3680_3684dup	NP_001317507.1:p.Val1229TrpfsTer25