Canonical Allele Identifier: CA2695218789

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950077dup , CM000675.2:g.51950077dup	GRCh38
NC_000013.10:g.52524213dup , CM000675.1:g.52524213dup	GRCh37
NC_000013.9:g.51422214dup	NCBI36
NG_008806.1:g.66418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*493dup	ENSP00000489512.2:n.*493dup
ENST00000673864.2:c.*1404dup	ENSP00000501045.2:n.*1404dup
ENST00000674147.2:c.2174dup	ENSP00000500964.2:p.Thr726TyrfsTer6
ENST00000242839.10:c.2660dup MANE Select	ENSP00000242839.5:p.Thr888TyrfsTer6
ENST00000344297.9:c.2174dup	ENSP00000342559.5:p.Thr726TyrfsTer6
ENST00000400366.6:c.2327dup	ENSP00000383217.3:p.Thr777TyrfsTer6
ENST00000448424.7:c.2408dup	ENSP00000416738.3:p.Thr804TyrfsTer6
ENST00000673772.1:c.2426dup	ENSP00000501168.1:p.Thr810TyrfsTer6
ENST00000674147.1:c.1730dup	ENSP00000500964.1:p.Thr578TyrfsTer6
ENST00000242839.8:c.2660dup	ENSP00000242839.4:p.Thr888TyrfsTer6
ENST00000344297.8:c.2174dup	ENSP00000342559.5:p.Thr726TyrfsTer6
ENST00000400366.5:c.2327dup	ENSP00000383217.3:p.Thr777TyrfsTer6
ENST00000400370.8:c.1370dup	ENSP00000383221.3:p.Thr458TyrfsTer6
ENST00000418097.7:c.2660dup	ENSP00000393343.2:p.Thr888TyrfsTer6
ENST00000448424.6:c.2426dup	ENSP00000416738.2:p.Thr810TyrfsTer6
ENST00000634296.1:c.621dup
ENST00000634308.1:c.2426dup	ENSP00000489234.1:p.Thr810TyrfsTer6
ENST00000634620.1:n.3458dup
ENST00000634810.1:n.2005dup
ENST00000634844.1:c.2516dup	ENSP00000489398.1:p.Thr840TyrfsTer6
ENST00000635406.1:n.212-3599dup
NM_000053.3:c.2660dup	NP_000044.2:p.Thr888TyrfsTer6
NM_001005918.2:c.2174dup	NP_001005918.1:p.Thr726TyrfsTer6
NM_001243182.1:c.2327dup	NP_001230111.1:p.Thr777TyrfsTer6
XM_005266423.2:c.2564dup	XP_005266480.1:p.Thr856TyrfsTer6
XM_005266424.3:c.2564dup	XP_005266481.1:p.Thr856TyrfsTer6
XM_005266427.2:c.2426dup	XP_005266484.1:p.Thr810TyrfsTer6
XM_005266428.1:c.2408dup	XP_005266485.1:p.Thr804TyrfsTer6
XM_005266430.3:c.2660dup	XP_005266487.1:p.Thr888TyrfsTer6
XM_005266431.2:c.2624dup	XP_005266488.1:p.Thr876TyrfsTer6
XM_005266432.2:c.2174dup	XP_005266489.1:p.Thr726TyrfsTer6
XM_006719837.2:c.2564dup	XP_006719900.1:p.Thr856TyrfsTer6
XM_006719838.1:c.476dup	XP_006719901.1:p.Thr160TyrfsTer6
XM_006719839.1:c.476dup	XP_006719902.1:p.Thr160TyrfsTer6
XM_011535117.1:c.2564dup	XP_011533419.1:p.Thr856TyrfsTer6
XM_011535118.1:c.2660dup	XP_011533420.1:p.Thr888TyrfsTer6
XM_011535119.1:c.2660dup	XP_011533421.1:p.Thr888TyrfsTer6
XM_011535120.1:c.2246dup	XP_011533422.1:p.Thr750TyrfsTer6
XM_011535121.1:c.2660dup	XP_011533423.1:p.Thr888TyrfsTer6
XM_011535122.1:c.1328dup	XP_011533424.1:p.Thr444TyrfsTer6
XR_941601.1:n.2879dup
XR_941602.1:n.2879dup
XR_941603.1:n.2879dup
XR_941604.1:n.2879dup
NM_001330578.1:c.2426dup	NP_001317507.1:p.Thr810TyrfsTer6
NM_001330579.1:c.2408dup	NP_001317508.1:p.Thr804TyrfsTer6
XM_005266424.4:c.2564dup	XP_005266481.1:p.Thr856TyrfsTer6
XM_005266430.4:c.2660dup	XP_005266487.1:p.Thr888TyrfsTer6
XM_005266431.4:c.2624dup	XP_005266488.1:p.Thr876TyrfsTer6
XM_006719837.3:c.2564dup	XP_006719900.1:p.Thr856TyrfsTer6
XM_011535117.3:c.2564dup	XP_011533419.1:p.Thr856TyrfsTer6
XM_017020627.1:c.2564dup	XP_016876116.1:p.Thr856TyrfsTer6
NM_000053.4:c.2660dup MANE Select	NP_000044.2:p.Thr888TyrfsTer6
NM_001005918.3:c.2174dup	NP_001005918.1:p.Thr726TyrfsTer6
NM_001330579.2:c.2408dup	NP_001317508.1:p.Thr804TyrfsTer6
NM_001243182.2:c.2327dup	NP_001230111.1:p.Thr777TyrfsTer6
NM_001330578.2:c.2426dup	NP_001317507.1:p.Thr810TyrfsTer6