Canonical Allele Identifier: CA645509352

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934864del , CM000675.2:g.51934864del	GRCh38
NC_000013.10:g.52509000del , CM000675.1:g.52509000del	GRCh37
NC_000013.9:g.51407001del	NCBI36
NG_008806.1:g.81631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1940del	ENSP00000489512.2:n.*1940del
ENST00000673864.2:c.*3034del	ENSP00000501045.2:n.*3034del
ENST00000674147.2:c.3669del	ENSP00000500964.2:p.Ser1224ProfsTer3
ENST00000242839.10:c.4290del MANE Select	ENSP00000242839.5:p.Ser1431ProfsTer3
ENST00000344297.9:c.3669del	ENSP00000342559.5:p.Ser1224ProfsTer3
ENST00000400366.6:c.3957del	ENSP00000383217.3:p.Ser1320ProfsTer3
ENST00000448424.7:c.4038del	ENSP00000416738.3:p.Ser1347ProfsTer3
ENST00000673696.1:n.1613del
ENST00000673772.1:c.4056del	ENSP00000501168.1:p.Ser1353ProfsTer3
ENST00000673867.1:n.4429del
ENST00000673923.1:n.1156del
ENST00000674147.1:c.3225del	ENSP00000500964.1:p.Ser1076ProfsTer3
ENST00000242839.8:c.4290del	ENSP00000242839.4:p.Ser1431ProfsTer3
ENST00000344297.8:c.3669del	ENSP00000342559.5:p.Ser1224ProfsTer3
ENST00000400366.5:c.3957del	ENSP00000383217.3:p.Ser1320ProfsTer3
ENST00000400370.8:c.3000del	ENSP00000383221.3:p.Ser1001ProfsTer3
ENST00000418097.7:c.4095del	ENSP00000393343.2:p.Ser1366ProfsTer3
ENST00000448424.6:c.4056del	ENSP00000416738.2:p.Ser1353ProfsTer3
ENST00000634296.1:c.2068del
ENST00000634308.1:c.*1391del	ENSP00000489234.1:n.*1391del
ENST00000634620.1:n.5034del
ENST00000634810.1:n.3635del
ENST00000634844.1:c.4146del	ENSP00000489398.1:p.Ser1383ProfsTer3
NM_000053.3:c.4290del	NP_000044.2:p.Ser1431ProfsTer3
NM_001005918.2:c.3669del	NP_001005918.1:p.Ser1224ProfsTer3
NM_001243182.1:c.3957del	NP_001230111.1:p.Ser1320ProfsTer3
XM_005266423.2:c.4194del	XP_005266480.1:p.Ser1399ProfsTer3
XM_005266424.3:c.4194del	XP_005266481.1:p.Ser1399ProfsTer3
XM_005266427.2:c.4056del	XP_005266484.1:p.Ser1353ProfsTer3
XM_005266428.1:c.4038del	XP_005266485.1:p.Ser1347ProfsTer3
XM_005266430.3:c.4290del	XP_005266487.1:p.Ser1431ProfsTer3
XM_005266431.2:c.4254del	XP_005266488.1:p.Ser1419ProfsTer3
XM_005266432.2:c.3804del	XP_005266489.1:p.Ser1269ProfsTer3
XM_006719837.2:c.4194del	XP_006719900.1:p.Ser1399ProfsTer3
XM_006719838.1:c.2106del	XP_006719901.1:p.Ser703ProfsTer3
XM_006719839.1:c.1923del	XP_006719902.1:p.Ser642ProfsTer3
XM_011535117.1:c.4194del	XP_011533419.1:p.Ser1399ProfsTer3
XM_011535118.1:c.4155del	XP_011533420.1:p.Ser1386ProfsTer3
XM_011535119.1:c.4107del	XP_011533421.1:p.Ser1370ProfsTer3
XM_011535120.1:c.3876del	XP_011533422.1:p.Ser1293ProfsTer3
XM_011535121.1:c.3777del	XP_011533423.1:p.Ser1260ProfsTer3
XM_011535122.1:c.2958del	XP_011533424.1:p.Ser987ProfsTer3
XR_941601.1:n.4509del
XR_941602.1:n.4509del
XR_941603.1:n.4509del
XR_941604.1:n.4509del
NM_001330578.1:c.4056del	NP_001317507.1:p.Ser1353ProfsTer3
NM_001330579.1:c.4038del	NP_001317508.1:p.Ser1347ProfsTer3
XM_005266424.4:c.4194del	XP_005266481.1:p.Ser1399ProfsTer3
XM_005266430.4:c.4290del	XP_005266487.1:p.Ser1431ProfsTer3
XM_005266431.4:c.4254del	XP_005266488.1:p.Ser1419ProfsTer3
XM_006719837.3:c.4194del	XP_006719900.1:p.Ser1399ProfsTer3
XM_011535117.3:c.4194del	XP_011533419.1:p.Ser1399ProfsTer3
XM_017020627.1:c.4194del	XP_016876116.1:p.Ser1399ProfsTer3
NM_000053.4:c.4290del MANE Select	NP_000044.2:p.Ser1431ProfsTer3
NM_001005918.3:c.3669del	NP_001005918.1:p.Ser1224ProfsTer3
NM_001330579.2:c.4038del	NP_001317508.1:p.Ser1347ProfsTer3
NM_001243182.2:c.3957del	NP_001230111.1:p.Ser1320ProfsTer3
NM_001330578.2:c.4056del	NP_001317507.1:p.Ser1353ProfsTer3