Canonical Allele Identifier: CA2697551886

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2700344
• ClinVar RCV Id: RCV003503462

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942481_51942482dup , CM000675.2:g.51942481_51942482dup	GRCh38
NC_000013.10:g.52516617_52516618dup , CM000675.1:g.52516617_52516618dup	GRCh37
NC_000013.9:g.51414618_51414619dup	NCBI36
NG_008806.1:g.74013_74014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*966_*967dup	ENSP00000489512.2:n.*966_*967dup
ENST00000673864.2:c.*2060_*2061dup	ENSP00000501045.2:n.*2060_*2061dup
ENST00000674147.2:c.2695_2696dup	ENSP00000500964.2:p.Asn901AlafsTer14
ENST00000242839.10:c.3316_3317dup MANE Select	ENSP00000242839.5:p.Asn1108AlafsTer14
ENST00000344297.9:c.2695_2696dup	ENSP00000342559.5:p.Asn901AlafsTer14
ENST00000400366.6:c.2983_2984dup	ENSP00000383217.3:p.Asn997AlafsTer14
ENST00000448424.7:c.3064_3065dup	ENSP00000416738.3:p.Asn1024AlafsTer14
ENST00000673772.1:c.3082_3083dup	ENSP00000501168.1:p.Asn1030AlafsTer14
ENST00000673867.1:n.3455_3456dup
ENST00000674126.1:n.3679_3680dup
ENST00000674147.1:c.2251_2252dup	ENSP00000500964.1:p.Asn753AlafsTer14
ENST00000242839.8:c.3316_3317dup	ENSP00000242839.4:p.Asn1108AlafsTer14
ENST00000344297.8:c.2695_2696dup	ENSP00000342559.5:p.Asn901AlafsTer14
ENST00000400366.5:c.2983_2984dup	ENSP00000383217.3:p.Asn997AlafsTer14
ENST00000400370.8:c.2026_2027dup	ENSP00000383221.3:p.Asn678AlafsTer14
ENST00000418097.7:c.3121_3122dup	ENSP00000393343.2:p.Asn1043AlafsTer14
ENST00000448424.6:c.3082_3083dup	ENSP00000416738.2:p.Asn1030AlafsTer14
ENST00000634296.1:c.1094_1095dup
ENST00000634308.1:c.*417_*418dup	ENSP00000489234.1:n.*417_*418dup
ENST00000634620.1:n.4060_4061dup
ENST00000634810.1:n.2661_2662dup
ENST00000634844.1:c.3172_3173dup	ENSP00000489398.1:p.Asn1060AlafsTer14
NM_000053.3:c.3316_3317dup	NP_000044.2:p.Asn1108AlafsTer14
NM_001005918.2:c.2695_2696dup	NP_001005918.1:p.Asn901AlafsTer14
NM_001243182.1:c.2983_2984dup	NP_001230111.1:p.Asn997AlafsTer14
XM_005266423.2:c.3220_3221dup	XP_005266480.1:p.Asn1076AlafsTer14
XM_005266424.3:c.3220_3221dup	XP_005266481.1:p.Asn1076AlafsTer14
XM_005266427.2:c.3082_3083dup	XP_005266484.1:p.Asn1030AlafsTer14
XM_005266428.1:c.3064_3065dup	XP_005266485.1:p.Asn1024AlafsTer14
XM_005266430.3:c.3316_3317dup	XP_005266487.1:p.Asn1108AlafsTer14
XM_005266431.2:c.3280_3281dup	XP_005266488.1:p.Asn1096AlafsTer14
XM_005266432.2:c.2830_2831dup	XP_005266489.1:p.Asn946AlafsTer14
XM_006719837.2:c.3220_3221dup	XP_006719900.1:p.Asn1076AlafsTer14
XM_006719838.1:c.1132_1133dup	XP_006719901.1:p.Asn380AlafsTer14
XM_006719839.1:c.949_950dup	XP_006719902.1:p.Asn319AlafsTer14
XM_011535117.1:c.3220_3221dup	XP_011533419.1:p.Asn1076AlafsTer14
XM_011535118.1:c.3181_3182dup	XP_011533420.1:p.Asn1063AlafsTer14
XM_011535119.1:c.3133_3134dup	XP_011533421.1:p.Asn1047AlafsTer14
XM_011535120.1:c.2902_2903dup	XP_011533422.1:p.Asn970AlafsTer14
XM_011535121.1:c.2803_2804dup	XP_011533423.1:p.Asn937AlafsTer14
XM_011535122.1:c.1984_1985dup	XP_011533424.1:p.Asn664AlafsTer14
XR_941601.1:n.3535_3536dup
XR_941602.1:n.3535_3536dup
XR_941603.1:n.3535_3536dup
XR_941604.1:n.3535_3536dup
NM_001330578.1:c.3082_3083dup	NP_001317507.1:p.Asn1030AlafsTer14
NM_001330579.1:c.3064_3065dup	NP_001317508.1:p.Asn1024AlafsTer14
XM_005266424.4:c.3220_3221dup	XP_005266481.1:p.Asn1076AlafsTer14
XM_005266430.4:c.3316_3317dup	XP_005266487.1:p.Asn1108AlafsTer14
XM_005266431.4:c.3280_3281dup	XP_005266488.1:p.Asn1096AlafsTer14
XM_006719837.3:c.3220_3221dup	XP_006719900.1:p.Asn1076AlafsTer14
XM_011535117.3:c.3220_3221dup	XP_011533419.1:p.Asn1076AlafsTer14
XM_017020627.1:c.3220_3221dup	XP_016876116.1:p.Asn1076AlafsTer14
NM_000053.4:c.3316_3317dup MANE Select	NP_000044.2:p.Asn1108AlafsTer14
NM_001005918.3:c.2695_2696dup	NP_001005918.1:p.Asn901AlafsTer14
NM_001330579.2:c.3064_3065dup	NP_001317508.1:p.Asn1024AlafsTer14
NM_001243182.2:c.2983_2984dup	NP_001230111.1:p.Asn997AlafsTer14
NM_001330578.2:c.3082_3083dup	NP_001317507.1:p.Asn1030AlafsTer14