Canonical Allele Identifier: CA2695218787

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950054_51950055insA , CM000675.2:g.51950054_51950055insA	GRCh38
NC_000013.10:g.52524190_52524191insA , CM000675.1:g.52524190_52524191insA	GRCh37
NC_000013.9:g.51422191_51422192insA	NCBI36
NG_008806.1:g.66440_66441insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*515_*516insT	ENSP00000489512.2:n.*515_*516insT
ENST00000673864.2:c.*1426_*1427insT	ENSP00000501045.2:n.*1426_*1427insT
ENST00000674147.2:c.2196_2197insT	ENSP00000500964.2:p.Thr733TyrfsTer?
ENST00000242839.10:c.2682_2683insT MANE Select	ENSP00000242839.5:p.Thr895TyrfsTer24
ENST00000344297.9:c.2196_2197insT	ENSP00000342559.5:p.Thr733TyrfsTer?
ENST00000400366.6:c.2349_2350insT	ENSP00000383217.3:p.Thr784TyrfsTer24
ENST00000448424.7:c.2430_2431insT	ENSP00000416738.3:p.Thr811TyrfsTer24
ENST00000673772.1:c.2448_2449insT	ENSP00000501168.1:p.Thr817TyrfsTer24
ENST00000674147.1:c.1752_1753insT	ENSP00000500964.1:p.Thr585TyrfsTer?
ENST00000242839.8:c.2682_2683insT	ENSP00000242839.4:p.Thr895TyrfsTer24
ENST00000344297.8:c.2196_2197insT	ENSP00000342559.5:p.Thr733TyrfsTer?
ENST00000400366.5:c.2349_2350insT	ENSP00000383217.3:p.Thr784TyrfsTer24
ENST00000400370.8:c.1392_1393insT	ENSP00000383221.3:p.Thr465TyrfsTer24
ENST00000418097.7:c.2682_2683insT	ENSP00000393343.2:p.Thr895TyrfsTer24
ENST00000448424.6:c.2448_2449insT	ENSP00000416738.2:p.Thr817TyrfsTer24
ENST00000634296.1:c.643_644insT
ENST00000634308.1:c.2448_2449insT	ENSP00000489234.1:p.Thr817TyrfsTer24
ENST00000634620.1:n.3480_3481insT
ENST00000634810.1:n.2027_2028insT
ENST00000634844.1:c.2538_2539insT	ENSP00000489398.1:p.Thr847TyrfsTer24
ENST00000635406.1:n.212-3577_212-3576insT
NM_000053.3:c.2682_2683insT	NP_000044.2:p.Thr895TyrfsTer24
NM_001005918.2:c.2196_2197insT	NP_001005918.1:p.Thr733TyrfsTer?
NM_001243182.1:c.2349_2350insT	NP_001230111.1:p.Thr784TyrfsTer24
XM_005266423.2:c.2586_2587insT	XP_005266480.1:p.Thr863TyrfsTer24
XM_005266424.3:c.2586_2587insT	XP_005266481.1:p.Thr863TyrfsTer24
XM_005266427.2:c.2448_2449insT	XP_005266484.1:p.Thr817TyrfsTer24
XM_005266428.1:c.2430_2431insT	XP_005266485.1:p.Thr811TyrfsTer24
XM_005266430.3:c.2682_2683insT	XP_005266487.1:p.Thr895TyrfsTer24
XM_005266431.2:c.2646_2647insT	XP_005266488.1:p.Thr883TyrfsTer24
XM_005266432.2:c.2196_2197insT	XP_005266489.1:p.Thr733TyrfsTer24
XM_006719837.2:c.2586_2587insT	XP_006719900.1:p.Thr863TyrfsTer24
XM_006719838.1:c.498_499insT	XP_006719901.1:p.Thr167TyrfsTer24
XM_006719839.1:c.498_499insT	XP_006719902.1:p.Thr167TyrfsTer24
XM_011535117.1:c.2586_2587insT	XP_011533419.1:p.Thr863TyrfsTer24
XM_011535118.1:c.2682_2683insT	XP_011533420.1:p.Thr895TyrfsTer?
XM_011535119.1:c.2682_2683insT	XP_011533421.1:p.Thr895TyrfsTer24
XM_011535120.1:c.2268_2269insT	XP_011533422.1:p.Thr757TyrfsTer24
XM_011535121.1:c.2682_2683insT	XP_011533423.1:p.Thr895TyrfsTer?
XM_011535122.1:c.1350_1351insT	XP_011533424.1:p.Thr451TyrfsTer24
XR_941601.1:n.2901_2902insT
XR_941602.1:n.2901_2902insT
XR_941603.1:n.2901_2902insT
XR_941604.1:n.2901_2902insT
NM_001330578.1:c.2448_2449insT	NP_001317507.1:p.Thr817TyrfsTer24
NM_001330579.1:c.2430_2431insT	NP_001317508.1:p.Thr811TyrfsTer24
XM_005266424.4:c.2586_2587insT	XP_005266481.1:p.Thr863TyrfsTer24
XM_005266430.4:c.2682_2683insT	XP_005266487.1:p.Thr895TyrfsTer24
XM_005266431.4:c.2646_2647insT	XP_005266488.1:p.Thr883TyrfsTer24
XM_006719837.3:c.2586_2587insT	XP_006719900.1:p.Thr863TyrfsTer24
XM_011535117.3:c.2586_2587insT	XP_011533419.1:p.Thr863TyrfsTer24
XM_017020627.1:c.2586_2587insT	XP_016876116.1:p.Thr863TyrfsTer24
NM_000053.4:c.2682_2683insT MANE Select	NP_000044.2:p.Thr895TyrfsTer24
NM_001005918.3:c.2196_2197insT	NP_001005918.1:p.Thr733TyrfsTer?
NM_001330579.2:c.2430_2431insT	NP_001317508.1:p.Thr811TyrfsTer24
NM_001243182.2:c.2349_2350insT	NP_001230111.1:p.Thr784TyrfsTer24
NM_001330578.2:c.2448_2449insT	NP_001317507.1:p.Thr817TyrfsTer24