Canonical Allele Identifier: CA2695218747

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944239del , CM000675.2:g.51944239del	GRCh38
NC_000013.10:g.52518375del , CM000675.1:g.52518375del	GRCh37
NC_000013.9:g.51416376del	NCBI36
NG_008806.1:g.72258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1683del	ENSP00000489512.2:n.*894-1683del
ENST00000673864.2:c.*1859del	ENSP00000501045.2:n.*1859del
ENST00000674147.2:c.2494del	ENSP00000500964.2:p.Val832SerfsTer?
ENST00000242839.10:c.3115del MANE Select	ENSP00000242839.5:p.Val1039SerfsTer?
ENST00000344297.9:c.2494del	ENSP00000342559.5:p.Val832SerfsTer?
ENST00000400366.6:c.2782del	ENSP00000383217.3:p.Val928SerfsTer?
ENST00000448424.7:c.2863del	ENSP00000416738.3:p.Val955SerfsTer?
ENST00000673772.1:c.2881del	ENSP00000501168.1:p.Val961SerfsTer?
ENST00000673867.1:n.3254del
ENST00000674126.1:n.3478del
ENST00000674147.1:c.2050del	ENSP00000500964.1:p.Val684SerfsTer?
ENST00000242839.8:c.3115del	ENSP00000242839.4:p.Val1039SerfsTer?
ENST00000344297.8:c.2494del	ENSP00000342559.5:p.Val832SerfsTer?
ENST00000400366.5:c.2782del	ENSP00000383217.3:p.Val928SerfsTer?
ENST00000400370.8:c.1825del	ENSP00000383221.3:p.Val609SerfsTer?
ENST00000418097.7:c.2920del	ENSP00000393343.2:p.Val974SerfsTer?
ENST00000448424.6:c.2881del	ENSP00000416738.2:p.Val961SerfsTer?
ENST00000466629.1:n.335del
ENST00000634296.1:c.1022-1683del
ENST00000634308.1:c.*216del	ENSP00000489234.1:n.*216del
ENST00000634620.1:n.3859del
ENST00000634810.1:n.2460del
ENST00000634844.1:c.2971del	ENSP00000489398.1:p.Val991SerfsTer?
ENST00000635406.1:n.461del
NM_000053.3:c.3115del	NP_000044.2:p.Val1039SerfsTer?
NM_001005918.2:c.2494del	NP_001005918.1:p.Val832SerfsTer?
NM_001243182.1:c.2782del	NP_001230111.1:p.Val928SerfsTer?
XM_005266423.2:c.3019del	XP_005266480.1:p.Val1007SerfsTer?
XM_005266424.3:c.3019del	XP_005266481.1:p.Val1007SerfsTer?
XM_005266427.2:c.2881del	XP_005266484.1:p.Val961SerfsTer?
XM_005266428.1:c.2863del	XP_005266485.1:p.Val955SerfsTer?
XM_005266430.3:c.3115del	XP_005266487.1:p.Val1039SerfsTer?
XM_005266431.2:c.3079del	XP_005266488.1:p.Val1027SerfsTer?
XM_005266432.2:c.2629del	XP_005266489.1:p.Val877SerfsTer?
XM_006719837.2:c.3019del	XP_006719900.1:p.Val1007SerfsTer?
XM_006719838.1:c.931del	XP_006719901.1:p.Val311SerfsTer?
XM_006719839.1:c.877-1683del	XP_006719902.1:n.877-1683del
XM_011535117.1:c.3019del	XP_011533419.1:p.Val1007SerfsTer?
XM_011535118.1:c.2980del	XP_011533420.1:p.Val994SerfsTer?
XM_011535119.1:c.3061-1683del	XP_011533421.1:n.3061-1683del
XM_011535120.1:c.2701del	XP_011533422.1:p.Val901SerfsTer?
XM_011535121.1:c.2731-1683del	XP_011533423.1:n.2731-1683del
XM_011535122.1:c.1783del	XP_011533424.1:p.Val595SerfsTer?
XR_941601.1:n.3334del
XR_941602.1:n.3334del
XR_941603.1:n.3334del
XR_941604.1:n.3334del
NM_001330578.1:c.2881del	NP_001317507.1:p.Val961SerfsTer?
NM_001330579.1:c.2863del	NP_001317508.1:p.Val955SerfsTer?
XM_005266424.4:c.3019del	XP_005266481.1:p.Val1007SerfsTer?
XM_005266430.4:c.3115del	XP_005266487.1:p.Val1039SerfsTer?
XM_005266431.4:c.3079del	XP_005266488.1:p.Val1027SerfsTer?
XM_006719837.3:c.3019del	XP_006719900.1:p.Val1007SerfsTer?
XM_011535117.3:c.3019del	XP_011533419.1:p.Val1007SerfsTer?
XM_017020627.1:c.3019del	XP_016876116.1:p.Val1007SerfsTer?
NM_000053.4:c.3115del MANE Select	NP_000044.2:p.Val1039SerfsTer?
NM_001005918.3:c.2494del	NP_001005918.1:p.Val832SerfsTer?
NM_001330579.2:c.2863del	NP_001317508.1:p.Val955SerfsTer?
NM_001243182.2:c.2782del	NP_001230111.1:p.Val928SerfsTer?
NM_001330578.2:c.2881del	NP_001317507.1:p.Val961SerfsTer?