Canonical Allele Identifier: CA956025317

Gene: ATP7B

Linked Data

• dbSNP Id: rs1956905531
• gnomAD v3: 13-51935506-TGA-T
• gnomAD v4: 13-51935506-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935510_51935511del , CM000675.2:g.51935510_51935511del	GRCh38
NC_000013.10:g.52509646_52509647del , CM000675.1:g.52509646_52509647del	GRCh37
NC_000013.9:g.51407647_51407648del	NCBI36
NG_008806.1:g.80987_80988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1774+85_*1774+86del	ENSP00000489512.2:n.*1774+85_*1774+86del
ENST00000673864.2:c.*2868+85_*2868+86del	ENSP00000501045.2:n.*2868+85_*2868+86del
ENST00000674147.2:c.3503+85_3503+86del	ENSP00000500964.2:n.3503+85_3503+86del
ENST00000242839.10:c.4124+85_4124+86del MANE Select	ENSP00000242839.5:n.4124+85_4124+86del
ENST00000344297.9:c.3503+85_3503+86del	ENSP00000342559.5:n.3503+85_3503+86del
ENST00000400366.6:c.3791+85_3791+86del	ENSP00000383217.3:n.3791+85_3791+86del
ENST00000448424.7:c.3872+85_3872+86del	ENSP00000416738.3:n.3872+85_3872+86del
ENST00000673696.1:n.1447+85_1447+86del
ENST00000673772.1:c.3890+85_3890+86del	ENSP00000501168.1:n.3890+85_3890+86del
ENST00000673867.1:n.4263+85_4263+86del
ENST00000673923.1:n.990+85_990+86del
ENST00000674147.1:c.3059+85_3059+86del	ENSP00000500964.1:n.3059+85_3059+86del
ENST00000242839.8:c.4124+85_4124+86del	ENSP00000242839.4:n.4124+85_4124+86del
ENST00000344297.8:c.3503+85_3503+86del	ENSP00000342559.5:n.3503+85_3503+86del
ENST00000400366.5:c.3791+85_3791+86del	ENSP00000383217.3:n.3791+85_3791+86del
ENST00000400370.8:c.2834+85_2834+86del	ENSP00000383221.3:n.2834+85_2834+86del
ENST00000418097.7:c.3929+85_3929+86del	ENSP00000393343.2:n.3929+85_3929+86del
ENST00000448424.6:c.3890+85_3890+86del	ENSP00000416738.2:n.3890+85_3890+86del
ENST00000634296.1:c.1902+85_1902+86del
ENST00000634308.1:c.*1225+85_*1225+86del	ENSP00000489234.1:n.*1225+85_*1225+86del
ENST00000634620.1:n.4868+85_4868+86del
ENST00000634810.1:n.3469+85_3469+86del
ENST00000634844.1:c.3980+85_3980+86del	ENSP00000489398.1:n.3980+85_3980+86del
NM_000053.3:c.4124+85_4124+86del	NP_000044.2:n.4124+85_4124+86del
NM_001005918.2:c.3503+85_3503+86del	NP_001005918.1:n.3503+85_3503+86del
NM_001243182.1:c.3791+85_3791+86del	NP_001230111.1:n.3791+85_3791+86del
XM_005266423.2:c.4028+85_4028+86del	XP_005266480.1:n.4028+85_4028+86del
XM_005266424.3:c.4028+85_4028+86del	XP_005266481.1:n.4028+85_4028+86del
XM_005266427.2:c.3890+85_3890+86del	XP_005266484.1:n.3890+85_3890+86del
XM_005266428.1:c.3872+85_3872+86del	XP_005266485.1:n.3872+85_3872+86del
XM_005266430.3:c.4124+85_4124+86del	XP_005266487.1:n.4124+85_4124+86del
XM_005266431.2:c.4088+85_4088+86del	XP_005266488.1:n.4088+85_4088+86del
XM_005266432.2:c.3638+85_3638+86del	XP_005266489.1:n.3638+85_3638+86del
XM_006719837.2:c.4028+85_4028+86del	XP_006719900.1:n.4028+85_4028+86del
XM_006719838.1:c.1940+85_1940+86del	XP_006719901.1:n.1940+85_1940+86del
XM_006719839.1:c.1757+85_1757+86del	XP_006719902.1:n.1757+85_1757+86del
XM_011535117.1:c.4028+85_4028+86del	XP_011533419.1:n.4028+85_4028+86del
XM_011535118.1:c.3989+85_3989+86del	XP_011533420.1:n.3989+85_3989+86del
XM_011535119.1:c.3941+85_3941+86del	XP_011533421.1:n.3941+85_3941+86del
XM_011535120.1:c.3710+85_3710+86del	XP_011533422.1:n.3710+85_3710+86del
XM_011535121.1:c.3611+85_3611+86del	XP_011533423.1:n.3611+85_3611+86del
XM_011535122.1:c.2792+85_2792+86del	XP_011533424.1:n.2792+85_2792+86del
XR_941601.1:n.4343+85_4343+86del
XR_941602.1:n.4343+85_4343+86del
XR_941603.1:n.4343+85_4343+86del
XR_941604.1:n.4343+85_4343+86del
NM_001330578.1:c.3890+85_3890+86del	NP_001317507.1:n.3890+85_3890+86del
NM_001330579.1:c.3872+85_3872+86del	NP_001317508.1:n.3872+85_3872+86del
XM_005266424.4:c.4028+85_4028+86del	XP_005266481.1:n.4028+85_4028+86del
XM_005266430.4:c.4124+85_4124+86del	XP_005266487.1:n.4124+85_4124+86del
XM_005266431.4:c.4088+85_4088+86del	XP_005266488.1:n.4088+85_4088+86del
XM_006719837.3:c.4028+85_4028+86del	XP_006719900.1:n.4028+85_4028+86del
XM_011535117.3:c.4028+85_4028+86del	XP_011533419.1:n.4028+85_4028+86del
XM_017020627.1:c.4028+85_4028+86del	XP_016876116.1:n.4028+85_4028+86del
NM_000053.4:c.4124+85_4124+86del MANE Select	NP_000044.2:n.4124+85_4124+86del
NM_001005918.3:c.3503+85_3503+86del	NP_001005918.1:n.3503+85_3503+86del
NM_001330579.2:c.3872+85_3872+86del	NP_001317508.1:n.3872+85_3872+86del
NM_001243182.2:c.3791+85_3791+86del	NP_001230111.1:n.3791+85_3791+86del
NM_001330578.2:c.3890+85_3890+86del	NP_001317507.1:n.3890+85_3890+86del