Canonical Allele Identifier: CA2695218748

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937498del , CM000675.2:g.51937498del	GRCh38
NC_000013.10:g.52511634del , CM000675.1:g.52511634del	GRCh37
NC_000013.9:g.51409635del	NCBI36
NG_008806.1:g.78997del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1531del	ENSP00000489512.2:n.*1531del
ENST00000673864.2:c.*2625del	ENSP00000501045.2:n.*2625del
ENST00000674147.2:c.3260del	ENSP00000500964.2:p.Ala1087GlufsTer?
ENST00000242839.10:c.3881del MANE Select	ENSP00000242839.5:p.Ala1294GlufsTer?
ENST00000344297.9:c.3260del	ENSP00000342559.5:p.Ala1087GlufsTer?
ENST00000400366.6:c.3548del	ENSP00000383217.3:p.Ala1183GlufsTer?
ENST00000448424.7:c.3629del	ENSP00000416738.3:p.Ala1210GlufsTer?
ENST00000673696.1:n.1122del
ENST00000673772.1:c.3647del	ENSP00000501168.1:p.Ala1216GlufsTer?
ENST00000673867.1:n.4020del
ENST00000673923.1:n.747del
ENST00000674147.1:c.2816del	ENSP00000500964.1:p.Ala939GlufsTer?
ENST00000242839.8:c.3881del	ENSP00000242839.4:p.Ala1294GlufsTer?
ENST00000344297.8:c.3260del	ENSP00000342559.5:p.Ala1087GlufsTer?
ENST00000400366.5:c.3548del	ENSP00000383217.3:p.Ala1183GlufsTer?
ENST00000400370.8:c.2591del	ENSP00000383221.3:p.Ala864GlufsTer?
ENST00000418097.7:c.3686del	ENSP00000393343.2:p.Ala1229GlufsTer?
ENST00000448424.6:c.3647del	ENSP00000416738.2:p.Ala1216GlufsTer?
ENST00000634296.1:c.1659del
ENST00000634308.1:c.*982del	ENSP00000489234.1:n.*982del
ENST00000634620.1:n.4625del
ENST00000634810.1:n.3226del
ENST00000634844.1:c.3737del	ENSP00000489398.1:p.Ala1246GlufsTer?
NM_000053.3:c.3881del	NP_000044.2:p.Ala1294GlufsTer?
NM_001005918.2:c.3260del	NP_001005918.1:p.Ala1087GlufsTer?
NM_001243182.1:c.3548del	NP_001230111.1:p.Ala1183GlufsTer?
XM_005266423.2:c.3785del	XP_005266480.1:p.Ala1262GlufsTer?
XM_005266424.3:c.3785del	XP_005266481.1:p.Ala1262GlufsTer?
XM_005266427.2:c.3647del	XP_005266484.1:p.Ala1216GlufsTer?
XM_005266428.1:c.3629del	XP_005266485.1:p.Ala1210GlufsTer?
XM_005266430.3:c.3881del	XP_005266487.1:p.Ala1294GlufsTer?
XM_005266431.2:c.3845del	XP_005266488.1:p.Ala1282GlufsTer?
XM_005266432.2:c.3395del	XP_005266489.1:p.Ala1132GlufsTer?
XM_006719837.2:c.3785del	XP_006719900.1:p.Ala1262GlufsTer?
XM_006719838.1:c.1697del	XP_006719901.1:p.Ala566GlufsTer?
XM_006719839.1:c.1514del	XP_006719902.1:p.Ala505GlufsTer?
XM_011535117.1:c.3785del	XP_011533419.1:p.Ala1262GlufsTer?
XM_011535118.1:c.3746del	XP_011533420.1:p.Ala1249GlufsTer?
XM_011535119.1:c.3698del	XP_011533421.1:p.Ala1233GlufsTer?
XM_011535120.1:c.3467del	XP_011533422.1:p.Ala1156GlufsTer?
XM_011535121.1:c.3368del	XP_011533423.1:p.Ala1123GlufsTer?
XM_011535122.1:c.2549del	XP_011533424.1:p.Ala850GlufsTer?
XR_941601.1:n.4100del
XR_941602.1:n.4100del
XR_941603.1:n.4100del
XR_941604.1:n.4100del
NM_001330578.1:c.3647del	NP_001317507.1:p.Ala1216GlufsTer?
NM_001330579.1:c.3629del	NP_001317508.1:p.Ala1210GlufsTer?
XM_005266424.4:c.3785del	XP_005266481.1:p.Ala1262GlufsTer?
XM_005266430.4:c.3881del	XP_005266487.1:p.Ala1294GlufsTer?
XM_005266431.4:c.3845del	XP_005266488.1:p.Ala1282GlufsTer?
XM_006719837.3:c.3785del	XP_006719900.1:p.Ala1262GlufsTer?
XM_011535117.3:c.3785del	XP_011533419.1:p.Ala1262GlufsTer?
XM_017020627.1:c.3785del	XP_016876116.1:p.Ala1262GlufsTer?
NM_000053.4:c.3881del MANE Select	NP_000044.2:p.Ala1294GlufsTer?
NM_001005918.3:c.3260del	NP_001005918.1:p.Ala1087GlufsTer?
NM_001330579.2:c.3629del	NP_001317508.1:p.Ala1210GlufsTer?
NM_001243182.2:c.3548del	NP_001230111.1:p.Ala1183GlufsTer?
NM_001330578.2:c.3647del	NP_001317507.1:p.Ala1216GlufsTer?