Canonical Allele Identifier: CA2695218731

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937298_51937299insCATTATAACCCAACC , CM000675.2:g.51937298_51937299insCATTATAACCCAACC	GRCh38
NC_000013.10:g.52511434_52511435insCATTATAACCCAACC , CM000675.1:g.52511434_52511435insCATTATAACCCAACC	GRCh37
NC_000013.9:g.51409435_51409436insCATTATAACCCAACC	NCBI36
NG_008806.1:g.79203_79204insTTATAATGGGTTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1655_*1656insTTATAATGGGTTGGG	ENSP00000489512.2:n.*1655_*1656insTTATAAT...
ENST00000673864.2:c.*2749_*2750insTTATAATGGGTTGGG	ENSP00000501045.2:n.*2749_*2750insTTATAAT...
ENST00000674147.2:c.3384_3385insTTATAATGGGTTGGG
ENST00000242839.10:c.4005_4006insTTATAATGGGTTGGG
ENST00000344297.9:c.3384_3385insTTATAATGGGTTGGG
ENST00000400366.6:c.3672_3673insTTATAATGGGTTGGG
ENST00000448424.7:c.3753_3754insTTATAATGGGTTGGG
ENST00000673696.1:n.1328_1329insTTATAATGGGTTGGG
ENST00000673772.1:c.3771_3772insTTATAATGGGTTGGG
ENST00000673867.1:n.4144_4145insTTATAATGGGTTGGG
ENST00000673923.1:n.871_872insTTATAATGGGTTGGG
ENST00000674147.1:c.2940_2941insTTATAATGGGTTGGG
ENST00000242839.8:c.4005_4006insTTATAATGGGTTGGG
ENST00000344297.8:c.3384_3385insTTATAATGGGTTGGG
ENST00000400366.5:c.3672_3673insTTATAATGGGTTGGG
ENST00000400370.8:c.2715_2716insTTATAATGGGTTGGG
ENST00000418097.7:c.3810_3811insTTATAATGGGTTGGG
ENST00000448424.6:c.3771_3772insTTATAATGGGTTGGG
ENST00000634296.1:c.1783_1784insTTATAATGGGTTGGG
ENST00000634308.1:c.*1106_*1107insTTATAATGGGTTGGG	ENSP00000489234.1:n.*1106_*1107insTTATAAT...
ENST00000634620.1:n.4749_4750insTTATAATGGGTTGGG
ENST00000634810.1:n.3350_3351insTTATAATGGGTTGGG
ENST00000634844.1:c.3861_3862insTTATAATGGGTTGGG
NM_000053.3:c.4005_4006insTTATAATGGGTTGGG
NM_001005918.2:c.3384_3385insTTATAATGGGTTGGG
NM_001243182.1:c.3672_3673insTTATAATGGGTTGGG
XM_005266423.2:c.3909_3910insTTATAATGGGTTGGG
XM_005266424.3:c.3909_3910insTTATAATGGGTTGGG
XM_005266427.2:c.3771_3772insTTATAATGGGTTGGG
XM_005266428.1:c.3753_3754insTTATAATGGGTTGGG
XM_005266430.3:c.4005_4006insTTATAATGGGTTGGG
XM_005266431.2:c.3969_3970insTTATAATGGGTTGGG
XM_005266432.2:c.3519_3520insTTATAATGGGTTGGG
XM_006719837.2:c.3909_3910insTTATAATGGGTTGGG
XM_006719838.1:c.1821_1822insTTATAATGGGTTGGG
XM_006719839.1:c.1638_1639insTTATAATGGGTTGGG
XM_011535117.1:c.3909_3910insTTATAATGGGTTGGG
XM_011535118.1:c.3870_3871insTTATAATGGGTTGGG
XM_011535119.1:c.3822_3823insTTATAATGGGTTGGG
XM_011535120.1:c.3591_3592insTTATAATGGGTTGGG
XM_011535121.1:c.3492_3493insTTATAATGGGTTGGG
XM_011535122.1:c.2673_2674insTTATAATGGGTTGGG
XR_941601.1:n.4224_4225insTTATAATGGGTTGGG
XR_941602.1:n.4224_4225insTTATAATGGGTTGGG
XR_941603.1:n.4224_4225insTTATAATGGGTTGGG
XR_941604.1:n.4224_4225insTTATAATGGGTTGGG
NM_001330578.1:c.3771_3772insTTATAATGGGTTGGG
NM_001330579.1:c.3753_3754insTTATAATGGGTTGGG
XM_005266424.4:c.3909_3910insTTATAATGGGTTGGG
XM_005266430.4:c.4005_4006insTTATAATGGGTTGGG
XM_005266431.4:c.3969_3970insTTATAATGGGTTGGG
XM_006719837.3:c.3909_3910insTTATAATGGGTTGGG
XM_011535117.3:c.3909_3910insTTATAATGGGTTGGG
XM_017020627.1:c.3909_3910insTTATAATGGGTTGGG
NM_000053.4:c.4005_4006insTTATAATGGGTTGGG
NM_001005918.3:c.3384_3385insTTATAATGGGTTGGG
NM_001330579.2:c.3753_3754insTTATAATGGGTTGGG
NM_001243182.2:c.3672_3673insTTATAATGGGTTGGG
NM_001330578.2:c.3771_3772insTTATAATGGGTTGGG