Canonical Allele Identifier: CA2830782745

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939072del , CM000675.2:g.51939072del	GRCh38
NC_000013.10:g.52513208del , CM000675.1:g.52513208del	GRCh37
NC_000013.9:g.51411209del	NCBI36
NG_008806.1:g.77423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1328del	ENSP00000489512.2:n.*1328del
ENST00000673864.2:c.*2422del	ENSP00000501045.2:n.*2422del
ENST00000674147.2:c.3057del	ENSP00000500964.2:p.Ala1020ProfsTer?
ENST00000242839.10:c.3678del MANE Select	ENSP00000242839.5:p.Ala1227ProfsTer?
ENST00000344297.9:c.3057del	ENSP00000342559.5:p.Ala1020ProfsTer?
ENST00000400366.6:c.3345del	ENSP00000383217.3:p.Ala1116ProfsTer?
ENST00000448424.7:c.3426del	ENSP00000416738.3:p.Ala1143ProfsTer?
ENST00000673696.1:n.919del
ENST00000673772.1:c.3444del	ENSP00000501168.1:p.Ala1149ProfsTer?
ENST00000673867.1:n.3817del
ENST00000673923.1:n.544del
ENST00000674147.1:c.2613del	ENSP00000500964.1:p.Ala872ProfsTer?
ENST00000242839.8:c.3678del	ENSP00000242839.4:p.Ala1227ProfsTer?
ENST00000344297.8:c.3057del	ENSP00000342559.5:p.Ala1020ProfsTer?
ENST00000400366.5:c.3345del	ENSP00000383217.3:p.Ala1116ProfsTer?
ENST00000400370.8:c.2388del	ENSP00000383221.3:p.Ala797ProfsTer?
ENST00000418097.7:c.3483del	ENSP00000393343.2:p.Ala1162ProfsTer?
ENST00000448424.6:c.3444del	ENSP00000416738.2:p.Ala1149ProfsTer?
ENST00000634296.1:c.1456del
ENST00000634308.1:c.*779del	ENSP00000489234.1:n.*779del
ENST00000634620.1:n.4422del
ENST00000634810.1:n.3023del
ENST00000634844.1:c.3534del	ENSP00000489398.1:p.Ala1179ProfsTer?
NM_000053.3:c.3678del	NP_000044.2:p.Ala1227ProfsTer?
NM_001005918.2:c.3057del	NP_001005918.1:p.Ala1020ProfsTer?
NM_001243182.1:c.3345del	NP_001230111.1:p.Ala1116ProfsTer?
XM_005266423.2:c.3582del	XP_005266480.1:p.Ala1195ProfsTer?
XM_005266424.3:c.3582del	XP_005266481.1:p.Ala1195ProfsTer?
XM_005266427.2:c.3444del	XP_005266484.1:p.Ala1149ProfsTer?
XM_005266428.1:c.3426del	XP_005266485.1:p.Ala1143ProfsTer?
XM_005266430.3:c.3678del	XP_005266487.1:p.Ala1227ProfsTer?
XM_005266431.2:c.3642del	XP_005266488.1:p.Ala1215ProfsTer?
XM_005266432.2:c.3192del	XP_005266489.1:p.Ala1065ProfsTer?
XM_006719837.2:c.3582del	XP_006719900.1:p.Ala1195ProfsTer?
XM_006719838.1:c.1494del	XP_006719901.1:p.Ala499ProfsTer?
XM_006719839.1:c.1311del	XP_006719902.1:p.Ala438ProfsTer?
XM_011535117.1:c.3582del	XP_011533419.1:p.Ala1195ProfsTer?
XM_011535118.1:c.3543del	XP_011533420.1:p.Ala1182ProfsTer?
XM_011535119.1:c.3495del	XP_011533421.1:p.Ala1166ProfsTer?
XM_011535120.1:c.3264del	XP_011533422.1:p.Ala1089ProfsTer?
XM_011535121.1:c.3165del	XP_011533423.1:p.Ala1056ProfsTer?
XM_011535122.1:c.2346del	XP_011533424.1:p.Ala783ProfsTer?
XR_941601.1:n.3897del
XR_941602.1:n.3897del
XR_941603.1:n.3897del
XR_941604.1:n.3897del
NM_001330578.1:c.3444del	NP_001317507.1:p.Ala1149ProfsTer?
NM_001330579.1:c.3426del	NP_001317508.1:p.Ala1143ProfsTer?
XM_005266424.4:c.3582del	XP_005266481.1:p.Ala1195ProfsTer?
XM_005266430.4:c.3678del	XP_005266487.1:p.Ala1227ProfsTer?
XM_005266431.4:c.3642del	XP_005266488.1:p.Ala1215ProfsTer?
XM_006719837.3:c.3582del	XP_006719900.1:p.Ala1195ProfsTer?
XM_011535117.3:c.3582del	XP_011533419.1:p.Ala1195ProfsTer?
XM_017020627.1:c.3582del	XP_016876116.1:p.Ala1195ProfsTer?
NM_000053.4:c.3678del MANE Select	NP_000044.2:p.Ala1227ProfsTer?
NM_001005918.3:c.3057del	NP_001005918.1:p.Ala1020ProfsTer?
NM_001330579.2:c.3426del	NP_001317508.1:p.Ala1143ProfsTer?
NM_001243182.2:c.3345del	NP_001230111.1:p.Ala1116ProfsTer?
NM_001330578.2:c.3444del	NP_001317507.1:p.Ala1149ProfsTer?