Canonical Allele Identifier: CA2695199759

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679805
• ClinVar RCV Id: RCV003464943

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946370del , CM000675.2:g.51946370del	GRCh38
NC_000013.10:g.52520506del , CM000675.1:g.52520506del	GRCh37
NC_000013.9:g.51418507del	NCBI36
NG_008806.1:g.70127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*809del	ENSP00000489512.2:n.*809del
ENST00000673864.2:c.*1720del	ENSP00000501045.2:n.*1720del
ENST00000674147.2:c.2355del	ENSP00000500964.2:p.Thr786ArgfsTer29
ENST00000242839.10:c.2976del MANE Select	ENSP00000242839.5:p.Thr993ArgfsTer29
ENST00000344297.9:c.2355del	ENSP00000342559.5:p.Thr786ArgfsTer29
ENST00000400366.6:c.2643del	ENSP00000383217.3:p.Thr882ArgfsTer29
ENST00000448424.7:c.2724del	ENSP00000416738.3:p.Thr909ArgfsTer29
ENST00000673772.1:c.2742del	ENSP00000501168.1:p.Thr915ArgfsTer29
ENST00000673867.1:n.1123del
ENST00000674126.1:n.3339del
ENST00000674147.1:c.1911del	ENSP00000500964.1:p.Thr638ArgfsTer29
ENST00000242839.8:c.2976del	ENSP00000242839.4:p.Thr993ArgfsTer29
ENST00000344297.8:c.2355del	ENSP00000342559.5:p.Thr786ArgfsTer29
ENST00000400366.5:c.2643del	ENSP00000383217.3:p.Thr882ArgfsTer29
ENST00000400370.8:c.1686del	ENSP00000383221.3:p.Thr563ArgfsTer29
ENST00000418097.7:c.2866-2077del	ENSP00000393343.2:n.2866-2077del
ENST00000448424.6:c.2742del	ENSP00000416738.2:p.Thr915ArgfsTer29
ENST00000466629.1:n.196del
ENST00000634296.1:c.937del
ENST00000634308.1:c.*77del	ENSP00000489234.1:n.*77del
ENST00000634620.1:n.3720del
ENST00000634810.1:n.2321del
ENST00000634844.1:c.2832del	ENSP00000489398.1:p.Thr945ArgfsTer29
ENST00000635406.1:n.322del
NM_000053.3:c.2976del	NP_000044.2:p.Thr993ArgfsTer29
NM_001005918.2:c.2355del	NP_001005918.1:p.Thr786ArgfsTer29
NM_001243182.1:c.2643del	NP_001230111.1:p.Thr882ArgfsTer29
XM_005266423.2:c.2880del	XP_005266480.1:p.Thr961ArgfsTer29
XM_005266424.3:c.2880del	XP_005266481.1:p.Thr961ArgfsTer29
XM_005266427.2:c.2742del	XP_005266484.1:p.Thr915ArgfsTer29
XM_005266428.1:c.2724del	XP_005266485.1:p.Thr909ArgfsTer29
XM_005266430.3:c.2976del	XP_005266487.1:p.Thr993ArgfsTer29
XM_005266431.2:c.2940del	XP_005266488.1:p.Thr981ArgfsTer29
XM_005266432.2:c.2490del	XP_005266489.1:p.Thr831ArgfsTer29
XM_006719837.2:c.2880del	XP_006719900.1:p.Thr961ArgfsTer29
XM_006719838.1:c.792del	XP_006719901.1:p.Thr265ArgfsTer29
XM_006719839.1:c.792del	XP_006719902.1:p.Thr265ArgfsTer?
XM_011535117.1:c.2880del	XP_011533419.1:p.Thr961ArgfsTer29
XM_011535118.1:c.2841del	XP_011533420.1:p.Thr948ArgfsTer29
XM_011535119.1:c.2976del	XP_011533421.1:p.Thr993ArgfsTer?
XM_011535120.1:c.2562del	XP_011533422.1:p.Thr855ArgfsTer29
XM_011535121.1:c.2730+3639del	XP_011533423.1:n.2730+3639del
XM_011535122.1:c.1644del	XP_011533424.1:p.Thr549ArgfsTer29
XR_941601.1:n.3195del
XR_941602.1:n.3195del
XR_941603.1:n.3195del
XR_941604.1:n.3195del
NM_001330578.1:c.2742del	NP_001317507.1:p.Thr915ArgfsTer29
NM_001330579.1:c.2724del	NP_001317508.1:p.Thr909ArgfsTer29
XM_005266424.4:c.2880del	XP_005266481.1:p.Thr961ArgfsTer29
XM_005266430.4:c.2976del	XP_005266487.1:p.Thr993ArgfsTer29
XM_005266431.4:c.2940del	XP_005266488.1:p.Thr981ArgfsTer29
XM_006719837.3:c.2880del	XP_006719900.1:p.Thr961ArgfsTer29
XM_011535117.3:c.2880del	XP_011533419.1:p.Thr961ArgfsTer29
XM_017020627.1:c.2880del	XP_016876116.1:p.Thr961ArgfsTer29
NM_000053.4:c.2976del MANE Select	NP_000044.2:p.Thr993ArgfsTer29
NM_001005918.3:c.2355del	NP_001005918.1:p.Thr786ArgfsTer29
NM_001330579.2:c.2724del	NP_001317508.1:p.Thr909ArgfsTer29
NM_001243182.2:c.2643del	NP_001230111.1:p.Thr882ArgfsTer29
NM_001330578.2:c.2742del	NP_001317507.1:p.Thr915ArgfsTer29