Canonical Allele Identifier: CA2739291795

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935674_51935675del , CM000675.2:g.51935674_51935675del	GRCh38
NC_000013.10:g.52509810_52509811del , CM000675.1:g.52509810_52509811del	GRCh37
NC_000013.9:g.51407811_51407812del	NCBI36
NG_008806.1:g.80820_80821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1692_*1693del	ENSP00000489512.2:n.*1692_*1693del
ENST00000673864.2:c.*2786_*2787del	ENSP00000501045.2:n.*2786_*2787del
ENST00000674147.2:c.3421_3422del	ENSP00000500964.2:p.Ile1141CysfsTer29
ENST00000242839.10:c.4042_4043del MANE Select	ENSP00000242839.5:p.Ile1348CysfsTer29
ENST00000344297.9:c.3421_3422del	ENSP00000342559.5:p.Ile1141CysfsTer29
ENST00000400366.6:c.3709_3710del	ENSP00000383217.3:p.Ile1237CysfsTer29
ENST00000448424.7:c.3790_3791del	ENSP00000416738.3:p.Ile1264CysfsTer29
ENST00000673696.1:n.1365_1366del
ENST00000673772.1:c.3808_3809del	ENSP00000501168.1:p.Ile1270CysfsTer29
ENST00000673867.1:n.4181_4182del
ENST00000673923.1:n.908_909del
ENST00000674147.1:c.2977_2978del	ENSP00000500964.1:p.Ile993CysfsTer29
ENST00000242839.8:c.4042_4043del	ENSP00000242839.4:p.Ile1348CysfsTer29
ENST00000344297.8:c.3421_3422del	ENSP00000342559.5:p.Ile1141CysfsTer29
ENST00000400366.5:c.3709_3710del	ENSP00000383217.3:p.Ile1237CysfsTer29
ENST00000400370.8:c.2752_2753del	ENSP00000383221.3:p.Ile918CysfsTer29
ENST00000418097.7:c.3847_3848del	ENSP00000393343.2:p.Ile1283CysfsTer29
ENST00000448424.6:c.3808_3809del	ENSP00000416738.2:p.Ile1270CysfsTer29
ENST00000634296.1:c.1820_1821del
ENST00000634308.1:c.*1143_*1144del	ENSP00000489234.1:n.*1143_*1144del
ENST00000634620.1:n.4786_4787del
ENST00000634810.1:n.3387_3388del
ENST00000634844.1:c.3898_3899del	ENSP00000489398.1:p.Ile1300CysfsTer29
NM_000053.3:c.4042_4043del	NP_000044.2:p.Ile1348CysfsTer29
NM_001005918.2:c.3421_3422del	NP_001005918.1:p.Ile1141CysfsTer29
NM_001243182.1:c.3709_3710del	NP_001230111.1:p.Ile1237CysfsTer29
XM_005266423.2:c.3946_3947del	XP_005266480.1:p.Ile1316CysfsTer29
XM_005266424.3:c.3946_3947del	XP_005266481.1:p.Ile1316CysfsTer29
XM_005266427.2:c.3808_3809del	XP_005266484.1:p.Ile1270CysfsTer29
XM_005266428.1:c.3790_3791del	XP_005266485.1:p.Ile1264CysfsTer29
XM_005266430.3:c.4042_4043del	XP_005266487.1:p.Ile1348CysfsTer29
XM_005266431.2:c.4006_4007del	XP_005266488.1:p.Ile1336CysfsTer29
XM_005266432.2:c.3556_3557del	XP_005266489.1:p.Ile1186CysfsTer29
XM_006719837.2:c.3946_3947del	XP_006719900.1:p.Ile1316CysfsTer29
XM_006719838.1:c.1858_1859del	XP_006719901.1:p.Ile620CysfsTer29
XM_006719839.1:c.1675_1676del	XP_006719902.1:p.Ile559CysfsTer29
XM_011535117.1:c.3946_3947del	XP_011533419.1:p.Ile1316CysfsTer29
XM_011535118.1:c.3907_3908del	XP_011533420.1:p.Ile1303CysfsTer29
XM_011535119.1:c.3859_3860del	XP_011533421.1:p.Ile1287CysfsTer29
XM_011535120.1:c.3628_3629del	XP_011533422.1:p.Ile1210CysfsTer29
XM_011535121.1:c.3529_3530del	XP_011533423.1:p.Ile1177CysfsTer29
XM_011535122.1:c.2710_2711del	XP_011533424.1:p.Ile904CysfsTer29
XR_941601.1:n.4261_4262del
XR_941602.1:n.4261_4262del
XR_941603.1:n.4261_4262del
XR_941604.1:n.4261_4262del
NM_001330578.1:c.3808_3809del	NP_001317507.1:p.Ile1270CysfsTer29
NM_001330579.1:c.3790_3791del	NP_001317508.1:p.Ile1264CysfsTer29
XM_005266424.4:c.3946_3947del	XP_005266481.1:p.Ile1316CysfsTer29
XM_005266430.4:c.4042_4043del	XP_005266487.1:p.Ile1348CysfsTer29
XM_005266431.4:c.4006_4007del	XP_005266488.1:p.Ile1336CysfsTer29
XM_006719837.3:c.3946_3947del	XP_006719900.1:p.Ile1316CysfsTer29
XM_011535117.3:c.3946_3947del	XP_011533419.1:p.Ile1316CysfsTer29
XM_017020627.1:c.3946_3947del	XP_016876116.1:p.Ile1316CysfsTer29
NM_000053.4:c.4042_4043del MANE Select	NP_000044.2:p.Ile1348CysfsTer29
NM_001005918.3:c.3421_3422del	NP_001005918.1:p.Ile1141CysfsTer29
NM_001330579.2:c.3790_3791del	NP_001317508.1:p.Ile1264CysfsTer29
NM_001243182.2:c.3709_3710del	NP_001230111.1:p.Ile1237CysfsTer29
NM_001330578.2:c.3808_3809del	NP_001317507.1:p.Ile1270CysfsTer29