Canonical Allele Identifier: CA2695199762

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679802
• ClinVar RCV Id: RCV003464940

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941111_51941115del , CM000675.2:g.51941111_51941115del	GRCh38
NC_000013.10:g.52515247_52515251del , CM000675.1:g.52515247_52515251del	GRCh37
NC_000013.9:g.51413248_51413252del	NCBI36
NG_008806.1:g.75382_75386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1174_*1178del	ENSP00000489512.2:n.*1174_*1178del
ENST00000673864.2:c.*2268_*2272del	ENSP00000501045.2:n.*2268_*2272del
ENST00000674147.2:c.2903_2907del	ENSP00000500964.2:p.Lys968ThrfsTer9
ENST00000242839.10:c.3524_3528del MANE Select	ENSP00000242839.5:p.Lys1175ThrfsTer9
ENST00000344297.9:c.2903_2907del	ENSP00000342559.5:p.Lys968ThrfsTer9
ENST00000400366.6:c.3191_3195del	ENSP00000383217.3:p.Lys1064ThrfsTer9
ENST00000448424.7:c.3272_3276del	ENSP00000416738.3:p.Lys1091ThrfsTer9
ENST00000673772.1:c.3290_3294del	ENSP00000501168.1:p.Lys1097ThrfsTer9
ENST00000673867.1:n.3663_3667del
ENST00000674126.1:n.3887_3891del
ENST00000674147.1:c.2459_2463del	ENSP00000500964.1:p.Lys820ThrfsTer9
ENST00000242839.8:c.3524_3528del	ENSP00000242839.4:p.Lys1175ThrfsTer9
ENST00000344297.8:c.2903_2907del	ENSP00000342559.5:p.Lys968ThrfsTer9
ENST00000400366.5:c.3191_3195del	ENSP00000383217.3:p.Lys1064ThrfsTer9
ENST00000400370.8:c.2234_2238del	ENSP00000383221.3:p.Lys745ThrfsTer9
ENST00000418097.7:c.3329_3333del	ENSP00000393343.2:p.Lys1110ThrfsTer9
ENST00000448424.6:c.3290_3294del	ENSP00000416738.2:p.Lys1097ThrfsTer9
ENST00000634296.1:c.1302_1306del
ENST00000634308.1:c.*625_*629del	ENSP00000489234.1:n.*625_*629del
ENST00000634620.1:n.4268_4272del
ENST00000634810.1:n.2869_2873del
ENST00000634844.1:c.3380_3384del	ENSP00000489398.1:p.Lys1127ThrfsTer9
NM_000053.3:c.3524_3528del	NP_000044.2:p.Lys1175ThrfsTer9
NM_001005918.2:c.2903_2907del	NP_001005918.1:p.Lys968ThrfsTer9
NM_001243182.1:c.3191_3195del	NP_001230111.1:p.Lys1064ThrfsTer9
XM_005266423.2:c.3428_3432del	XP_005266480.1:p.Lys1143ThrfsTer9
XM_005266424.3:c.3428_3432del	XP_005266481.1:p.Lys1143ThrfsTer9
XM_005266427.2:c.3290_3294del	XP_005266484.1:p.Lys1097ThrfsTer9
XM_005266428.1:c.3272_3276del	XP_005266485.1:p.Lys1091ThrfsTer9
XM_005266430.3:c.3524_3528del	XP_005266487.1:p.Lys1175ThrfsTer9
XM_005266431.2:c.3488_3492del	XP_005266488.1:p.Lys1163ThrfsTer9
XM_005266432.2:c.3038_3042del	XP_005266489.1:p.Lys1013ThrfsTer9
XM_006719837.2:c.3428_3432del	XP_006719900.1:p.Lys1143ThrfsTer9
XM_006719838.1:c.1340_1344del	XP_006719901.1:p.Lys447ThrfsTer9
XM_006719839.1:c.1157_1161del	XP_006719902.1:p.Lys386ThrfsTer9
XM_011535117.1:c.3428_3432del	XP_011533419.1:p.Lys1143ThrfsTer9
XM_011535118.1:c.3389_3393del	XP_011533420.1:p.Lys1130ThrfsTer9
XM_011535119.1:c.3341_3345del	XP_011533421.1:p.Lys1114ThrfsTer9
XM_011535120.1:c.3110_3114del	XP_011533422.1:p.Lys1037ThrfsTer9
XM_011535121.1:c.3011_3015del	XP_011533423.1:p.Lys1004ThrfsTer9
XM_011535122.1:c.2192_2196del	XP_011533424.1:p.Lys731ThrfsTer9
XR_941601.1:n.3743_3747del
XR_941602.1:n.3743_3747del
XR_941603.1:n.3743_3747del
XR_941604.1:n.3743_3747del
NM_001330578.1:c.3290_3294del	NP_001317507.1:p.Lys1097ThrfsTer9
NM_001330579.1:c.3272_3276del	NP_001317508.1:p.Lys1091ThrfsTer9
XM_005266424.4:c.3428_3432del	XP_005266481.1:p.Lys1143ThrfsTer9
XM_005266430.4:c.3524_3528del	XP_005266487.1:p.Lys1175ThrfsTer9
XM_005266431.4:c.3488_3492del	XP_005266488.1:p.Lys1163ThrfsTer9
XM_006719837.3:c.3428_3432del	XP_006719900.1:p.Lys1143ThrfsTer9
XM_011535117.3:c.3428_3432del	XP_011533419.1:p.Lys1143ThrfsTer9
XM_017020627.1:c.3428_3432del	XP_016876116.1:p.Lys1143ThrfsTer9
NM_000053.4:c.3524_3528del MANE Select	NP_000044.2:p.Lys1175ThrfsTer9
NM_001005918.3:c.2903_2907del	NP_001005918.1:p.Lys968ThrfsTer9
NM_001330579.2:c.3272_3276del	NP_001317508.1:p.Lys1091ThrfsTer9
NM_001243182.2:c.3191_3195del	NP_001230111.1:p.Lys1064ThrfsTer9
NM_001330578.2:c.3290_3294del	NP_001317507.1:p.Lys1097ThrfsTer9