Canonical Allele Identifier: CA913190864

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 633074
• ClinVar RCV Id: RCV000780938 ; RCV001008091
• dbSNP Id: rs1566598496
• gnomAD v3: 13-51974411-GACTTACA-G
• gnomAD v4: 13-51974411-GACTTACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51974413_51974419del , CM000675.2:g.51974413_51974419del	GRCh38
NC_000013.10:g.52548549_52548555del , CM000675.1:g.52548549_52548555del	GRCh37
NC_000013.9:g.51446550_51446556del	NCBI36
NG_008806.1:g.42077_42083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.802_808del	ENSP00000489512.2:p.Cys268LeufsTer4
ENST00000673864.2:c.802_808del	ENSP00000501045.2:p.Cys268LeufsTer4
ENST00000674147.2:c.802_808del	ENSP00000500964.2:p.Cys268LeufsTer4
ENST00000242839.10:c.802_808del MANE Select	ENSP00000242839.5:p.Cys268LeufsTer4
ENST00000344297.9:c.802_808del	ENSP00000342559.5:p.Cys268LeufsTer4
ENST00000400366.6:c.802_802+6del
ENST00000448424.7:c.802_808del	ENSP00000416738.3:p.Cys268LeufsTer4
ENST00000673772.1:c.802_808del	ENSP00000501168.1:p.Cys268LeufsTer4
ENST00000674078.1:n.907_913del
ENST00000674147.1:c.358_364del	ENSP00000500964.1:p.Cys120LeufsTer4
ENST00000242839.8:c.802_808del	ENSP00000242839.4:p.Cys268LeufsTer4
ENST00000344297.8:c.802_808del	ENSP00000342559.5:p.Cys268LeufsTer4
ENST00000400366.5:c.802_802+6del
ENST00000400370.8:c.802_808del	ENSP00000383221.3:p.Cys268LeufsTer4
ENST00000418097.7:c.802_808del	ENSP00000393343.2:p.Cys268LeufsTer4
ENST00000448424.6:c.802_808del	ENSP00000416738.2:p.Cys268LeufsTer4
ENST00000482841.6:n.923_929del
ENST00000634308.1:c.802_808del	ENSP00000489234.1:p.Cys268LeufsTer4
ENST00000634844.1:c.802_808del	ENSP00000489398.1:p.Cys268LeufsTer4
ENST00000635406.1:n.212-27940_212-27934del
NM_000053.3:c.802_808del	NP_000044.2:p.Cys268LeufsTer4
NM_001005918.2:c.802_808del	NP_001005918.1:p.Cys268LeufsTer4
NM_001243182.1:c.802_802+6del
XM_005266423.2:c.706_712del	XP_005266480.1:p.Cys236LeufsTer4
XM_005266424.3:c.706_712del	XP_005266481.1:p.Cys236LeufsTer4
XM_005266427.2:c.802_808del	XP_005266484.1:p.Cys268LeufsTer4
XM_005266428.1:c.802_808del	XP_005266485.1:p.Cys268LeufsTer4
XM_005266430.3:c.802_808del	XP_005266487.1:p.Cys268LeufsTer4
XM_005266431.2:c.766_772del	XP_005266488.1:p.Cys256LeufsTer4
XM_005266432.2:c.802_808del	XP_005266489.1:p.Cys268LeufsTer4
XM_006719837.2:c.706_712del	XP_006719900.1:p.Cys236LeufsTer4
XM_011535117.1:c.706_712del	XP_011533419.1:p.Cys236LeufsTer4
XM_011535118.1:c.802_808del	XP_011533420.1:p.Cys268LeufsTer4
XM_011535119.1:c.802_808del	XP_011533421.1:p.Cys268LeufsTer4
XM_011535120.1:c.802_808del	XP_011533422.1:p.Cys268LeufsTer4
XM_011535121.1:c.802_808del	XP_011533423.1:p.Cys268LeufsTer4
XR_941601.1:n.1021_1027del
XR_941602.1:n.1021_1027del
XR_941603.1:n.1021_1027del
XR_941604.1:n.1021_1027del
NM_001330578.1:c.802_808del	NP_001317507.1:p.Cys268LeufsTer4
NM_001330579.1:c.802_808del	NP_001317508.1:p.Cys268LeufsTer4
XM_005266424.4:c.706_712del	XP_005266481.1:p.Cys236LeufsTer4
XM_005266430.4:c.802_808del	XP_005266487.1:p.Cys268LeufsTer4
XM_005266431.4:c.766_772del	XP_005266488.1:p.Cys256LeufsTer4
XM_006719837.3:c.706_712del	XP_006719900.1:p.Cys236LeufsTer4
XM_011535117.3:c.706_712del	XP_011533419.1:p.Cys236LeufsTer4
XM_017020627.1:c.706_712del	XP_016876116.1:p.Cys236LeufsTer4
NM_000053.4:c.802_808del MANE Select	NP_000044.2:p.Cys268LeufsTer4
NM_001005918.3:c.802_808del	NP_001005918.1:p.Cys268LeufsTer4
NM_001330579.2:c.802_808del	NP_001317508.1:p.Cys268LeufsTer4
NM_001243182.2:c.802_802+6del
NM_001330578.2:c.802_808del	NP_001317507.1:p.Cys268LeufsTer4