Canonical Allele Identifier: CA2091551144

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935494_51935495delinsAT , CM000675.2:g.51935494_51935495delinsAT	GRCh38
NC_000013.10:g.52509630_52509631delinsAT , CM000675.1:g.52509630_52509631delinsAT	GRCh37
NC_000013.9:g.51407631_51407632delinsAT	NCBI36
NG_008806.1:g.81000_81001delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1774+98_*1774+99delinsAT	ENSP00000489512.2:n.*1774+98_*1774+99delinsAT
ENST00000673864.2:c.*2868+98_*2868+99delinsAT	ENSP00000501045.2:n.*2868+98_*2868+99delinsAT
ENST00000674147.2:c.3503+98_3503+99delinsAT	ENSP00000500964.2:n.3503+98_3503+99delinsAT
ENST00000242839.10:c.4124+98_4124+99delinsAT MANE Select	ENSP00000242839.5:n.4124+98_4124+99delinsAT
ENST00000344297.9:c.3503+98_3503+99delinsAT	ENSP00000342559.5:n.3503+98_3503+99delinsAT
ENST00000400366.6:c.3791+98_3791+99delinsAT	ENSP00000383217.3:n.3791+98_3791+99delinsAT
ENST00000448424.7:c.3872+98_3872+99delinsAT	ENSP00000416738.3:n.3872+98_3872+99delinsAT
ENST00000673696.1:n.1447+98_1447+99delinsAT
ENST00000673772.1:c.3890+98_3890+99delinsAT	ENSP00000501168.1:n.3890+98_3890+99delinsAT
ENST00000673867.1:n.4263+98_4263+99delinsAT
ENST00000673923.1:n.990+98_990+99delinsAT
ENST00000674147.1:c.3059+98_3059+99delinsAT	ENSP00000500964.1:n.3059+98_3059+99delinsAT
ENST00000242839.8:c.4124+98_4124+99delinsAT	ENSP00000242839.4:n.4124+98_4124+99delinsAT
ENST00000344297.8:c.3503+98_3503+99delinsAT	ENSP00000342559.5:n.3503+98_3503+99delinsAT
ENST00000400366.5:c.3791+98_3791+99delinsAT	ENSP00000383217.3:n.3791+98_3791+99delinsAT
ENST00000400370.8:c.2834+98_2834+99delinsAT	ENSP00000383221.3:n.2834+98_2834+99delinsAT
ENST00000418097.7:c.3929+98_3929+99delinsAT	ENSP00000393343.2:n.3929+98_3929+99delinsAT
ENST00000448424.6:c.3890+98_3890+99delinsAT	ENSP00000416738.2:n.3890+98_3890+99delinsAT
ENST00000634296.1:c.1902+98_1902+99delinsAT
ENST00000634308.1:c.*1225+98_*1225+99delinsAT	ENSP00000489234.1:n.*1225+98_*1225+99delinsAT
ENST00000634620.1:n.4868+98_4868+99delinsAT
ENST00000634810.1:n.3469+98_3469+99delinsAT
ENST00000634844.1:c.3980+98_3980+99delinsAT	ENSP00000489398.1:n.3980+98_3980+99delinsAT
NM_000053.3:c.4124+98_4124+99delinsAT	NP_000044.2:n.4124+98_4124+99delinsAT
NM_001005918.2:c.3503+98_3503+99delinsAT	NP_001005918.1:n.3503+98_3503+99delinsAT
NM_001243182.1:c.3791+98_3791+99delinsAT	NP_001230111.1:n.3791+98_3791+99delinsAT
XM_005266423.2:c.4028+98_4028+99delinsAT	XP_005266480.1:n.4028+98_4028+99delinsAT
XM_005266424.3:c.4028+98_4028+99delinsAT	XP_005266481.1:n.4028+98_4028+99delinsAT
XM_005266427.2:c.3890+98_3890+99delinsAT	XP_005266484.1:n.3890+98_3890+99delinsAT
XM_005266428.1:c.3872+98_3872+99delinsAT	XP_005266485.1:n.3872+98_3872+99delinsAT
XM_005266430.3:c.4124+98_4124+99delinsAT	XP_005266487.1:n.4124+98_4124+99delinsAT
XM_005266431.2:c.4088+98_4088+99delinsAT	XP_005266488.1:n.4088+98_4088+99delinsAT
XM_005266432.2:c.3638+98_3638+99delinsAT	XP_005266489.1:n.3638+98_3638+99delinsAT
XM_006719837.2:c.4028+98_4028+99delinsAT	XP_006719900.1:n.4028+98_4028+99delinsAT
XM_006719838.1:c.1940+98_1940+99delinsAT	XP_006719901.1:n.1940+98_1940+99delinsAT
XM_006719839.1:c.1757+98_1757+99delinsAT	XP_006719902.1:n.1757+98_1757+99delinsAT
XM_011535117.1:c.4028+98_4028+99delinsAT	XP_011533419.1:n.4028+98_4028+99delinsAT
XM_011535118.1:c.3989+98_3989+99delinsAT	XP_011533420.1:n.3989+98_3989+99delinsAT
XM_011535119.1:c.3941+98_3941+99delinsAT	XP_011533421.1:n.3941+98_3941+99delinsAT
XM_011535120.1:c.3710+98_3710+99delinsAT	XP_011533422.1:n.3710+98_3710+99delinsAT
XM_011535121.1:c.3611+98_3611+99delinsAT	XP_011533423.1:n.3611+98_3611+99delinsAT
XM_011535122.1:c.2792+98_2792+99delinsAT	XP_011533424.1:n.2792+98_2792+99delinsAT
XR_941601.1:n.4343+98_4343+99delinsAT
XR_941602.1:n.4343+98_4343+99delinsAT
XR_941603.1:n.4343+98_4343+99delinsAT
XR_941604.1:n.4343+98_4343+99delinsAT
NM_001330578.1:c.3890+98_3890+99delinsAT	NP_001317507.1:n.3890+98_3890+99delinsAT
NM_001330579.1:c.3872+98_3872+99delinsAT	NP_001317508.1:n.3872+98_3872+99delinsAT
XM_005266424.4:c.4028+98_4028+99delinsAT	XP_005266481.1:n.4028+98_4028+99delinsAT
XM_005266430.4:c.4124+98_4124+99delinsAT	XP_005266487.1:n.4124+98_4124+99delinsAT
XM_005266431.4:c.4088+98_4088+99delinsAT	XP_005266488.1:n.4088+98_4088+99delinsAT
XM_006719837.3:c.4028+98_4028+99delinsAT	XP_006719900.1:n.4028+98_4028+99delinsAT
XM_011535117.3:c.4028+98_4028+99delinsAT	XP_011533419.1:n.4028+98_4028+99delinsAT
XM_017020627.1:c.4028+98_4028+99delinsAT	XP_016876116.1:n.4028+98_4028+99delinsAT
NM_000053.4:c.4124+98_4124+99delinsAT MANE Select	NP_000044.2:n.4124+98_4124+99delinsAT
NM_001005918.3:c.3503+98_3503+99delinsAT	NP_001005918.1:n.3503+98_3503+99delinsAT
NM_001330579.2:c.3872+98_3872+99delinsAT	NP_001317508.1:n.3872+98_3872+99delinsAT
NM_001243182.2:c.3791+98_3791+99delinsAT	NP_001230111.1:n.3791+98_3791+99delinsAT
NM_001330578.2:c.3890+98_3890+99delinsAT	NP_001317507.1:n.3890+98_3890+99delinsAT