Canonical Allele Identifier: CA2575420456

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937345del , CM000675.2:g.51937345del	GRCh38
NC_000013.10:g.52511481del , CM000675.1:g.52511481del	GRCh37
NC_000013.9:g.51409482del	NCBI36
NG_008806.1:g.79150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1602del	ENSP00000489512.2:n.*1602del
ENST00000673864.2:c.*2696del	ENSP00000501045.2:n.*2696del
ENST00000674147.2:c.3331del	ENSP00000500964.2:p.Val1111SerfsTer12
ENST00000242839.10:c.3952del MANE Select	ENSP00000242839.5:p.Val1318SerfsTer12
ENST00000344297.9:c.3331del	ENSP00000342559.5:p.Val1111SerfsTer12
ENST00000400366.6:c.3619del	ENSP00000383217.3:p.Val1207SerfsTer12
ENST00000448424.7:c.3700del	ENSP00000416738.3:p.Val1234SerfsTer12
ENST00000673696.1:n.1275del
ENST00000673772.1:c.3718del	ENSP00000501168.1:p.Val1240SerfsTer12
ENST00000673867.1:n.4091del
ENST00000673923.1:n.818del
ENST00000674147.1:c.2887del	ENSP00000500964.1:p.Val963SerfsTer12
ENST00000242839.8:c.3952del	ENSP00000242839.4:p.Val1318SerfsTer12
ENST00000344297.8:c.3331del	ENSP00000342559.5:p.Val1111SerfsTer12
ENST00000400366.5:c.3619del	ENSP00000383217.3:p.Val1207SerfsTer12
ENST00000400370.8:c.2662del	ENSP00000383221.3:p.Val888SerfsTer12
ENST00000418097.7:c.3757del	ENSP00000393343.2:p.Val1253SerfsTer12
ENST00000448424.6:c.3718del	ENSP00000416738.2:p.Val1240SerfsTer12
ENST00000634296.1:c.1730del
ENST00000634308.1:c.*1053del	ENSP00000489234.1:n.*1053del
ENST00000634620.1:n.4696del
ENST00000634810.1:n.3297del
ENST00000634844.1:c.3808del	ENSP00000489398.1:p.Val1270SerfsTer12
NM_000053.3:c.3952del	NP_000044.2:p.Val1318SerfsTer12
NM_001005918.2:c.3331del	NP_001005918.1:p.Val1111SerfsTer12
NM_001243182.1:c.3619del	NP_001230111.1:p.Val1207SerfsTer12
XM_005266423.2:c.3856del	XP_005266480.1:p.Val1286SerfsTer12
XM_005266424.3:c.3856del	XP_005266481.1:p.Val1286SerfsTer12
XM_005266427.2:c.3718del	XP_005266484.1:p.Val1240SerfsTer12
XM_005266428.1:c.3700del	XP_005266485.1:p.Val1234SerfsTer12
XM_005266430.3:c.3952del	XP_005266487.1:p.Val1318SerfsTer12
XM_005266431.2:c.3916del	XP_005266488.1:p.Val1306SerfsTer12
XM_005266432.2:c.3466del	XP_005266489.1:p.Val1156SerfsTer12
XM_006719837.2:c.3856del	XP_006719900.1:p.Val1286SerfsTer12
XM_006719838.1:c.1768del	XP_006719901.1:p.Val590SerfsTer12
XM_006719839.1:c.1585del	XP_006719902.1:p.Val529SerfsTer12
XM_011535117.1:c.3856del	XP_011533419.1:p.Val1286SerfsTer12
XM_011535118.1:c.3817del	XP_011533420.1:p.Val1273SerfsTer12
XM_011535119.1:c.3769del	XP_011533421.1:p.Val1257SerfsTer12
XM_011535120.1:c.3538del	XP_011533422.1:p.Val1180SerfsTer12
XM_011535121.1:c.3439del	XP_011533423.1:p.Val1147SerfsTer12
XM_011535122.1:c.2620del	XP_011533424.1:p.Val874SerfsTer12
XR_941601.1:n.4171del
XR_941602.1:n.4171del
XR_941603.1:n.4171del
XR_941604.1:n.4171del
NM_001330578.1:c.3718del	NP_001317507.1:p.Val1240SerfsTer12
NM_001330579.1:c.3700del	NP_001317508.1:p.Val1234SerfsTer12
XM_005266424.4:c.3856del	XP_005266481.1:p.Val1286SerfsTer12
XM_005266430.4:c.3952del	XP_005266487.1:p.Val1318SerfsTer12
XM_005266431.4:c.3916del	XP_005266488.1:p.Val1306SerfsTer12
XM_006719837.3:c.3856del	XP_006719900.1:p.Val1286SerfsTer12
XM_011535117.3:c.3856del	XP_011533419.1:p.Val1286SerfsTer12
XM_017020627.1:c.3856del	XP_016876116.1:p.Val1286SerfsTer12
NM_000053.4:c.3952del MANE Select	NP_000044.2:p.Val1318SerfsTer12
NM_001005918.3:c.3331del	NP_001005918.1:p.Val1111SerfsTer12
NM_001330579.2:c.3700del	NP_001317508.1:p.Val1234SerfsTer12
NM_001243182.2:c.3619del	NP_001230111.1:p.Val1207SerfsTer12
NM_001330578.2:c.3718del	NP_001317507.1:p.Val1240SerfsTer12