Canonical Allele Identifier: CA1139663303

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 940120
• ClinVar RCV Id: RCV001209641
• dbSNP Id: rs1681704644

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944251dup , CM000675.2:g.51944251dup	GRCh38
NC_000013.10:g.52518387dup , CM000675.1:g.52518387dup	GRCh37
NC_000013.9:g.51416388dup	NCBI36
NG_008806.1:g.72244dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1697dup	ENSP00000489512.2:n.*894-1697dup
ENST00000673864.2:c.*1845dup	ENSP00000501045.2:n.*1845dup
ENST00000674147.2:c.2480dup	ENSP00000500964.2:p.His827GlnfsTer?
ENST00000242839.10:c.3101dup MANE Select	ENSP00000242839.5:p.His1034GlnfsTer?
ENST00000344297.9:c.2480dup	ENSP00000342559.5:p.His827GlnfsTer?
ENST00000400366.6:c.2768dup	ENSP00000383217.3:p.His923GlnfsTer?
ENST00000448424.7:c.2849dup	ENSP00000416738.3:p.His950GlnfsTer?
ENST00000673772.1:c.2867dup	ENSP00000501168.1:p.His956GlnfsTer?
ENST00000673867.1:n.3240dup
ENST00000674126.1:n.3464dup
ENST00000674147.1:c.2036dup	ENSP00000500964.1:p.His679GlnfsTer?
ENST00000242839.8:c.3101dup	ENSP00000242839.4:p.His1034GlnfsTer?
ENST00000344297.8:c.2480dup	ENSP00000342559.5:p.His827GlnfsTer?
ENST00000400366.5:c.2768dup	ENSP00000383217.3:p.His923GlnfsTer?
ENST00000400370.8:c.1811dup	ENSP00000383221.3:p.His604GlnfsTer?
ENST00000418097.7:c.2906dup	ENSP00000393343.2:p.His969GlnfsTer?
ENST00000448424.6:c.2867dup	ENSP00000416738.2:p.His956GlnfsTer?
ENST00000466629.1:n.321dup
ENST00000634296.1:c.1022-1697dup
ENST00000634308.1:c.*202dup	ENSP00000489234.1:n.*202dup
ENST00000634620.1:n.3845dup
ENST00000634810.1:n.2446dup
ENST00000634844.1:c.2957dup	ENSP00000489398.1:p.His986GlnfsTer?
ENST00000635406.1:n.447dup
NM_000053.3:c.3101dup	NP_000044.2:p.His1034GlnfsTer?
NM_001005918.2:c.2480dup	NP_001005918.1:p.His827GlnfsTer?
NM_001243182.1:c.2768dup	NP_001230111.1:p.His923GlnfsTer?
XM_005266423.2:c.3005dup	XP_005266480.1:p.His1002GlnfsTer?
XM_005266424.3:c.3005dup	XP_005266481.1:p.His1002GlnfsTer?
XM_005266427.2:c.2867dup	XP_005266484.1:p.His956GlnfsTer?
XM_005266428.1:c.2849dup	XP_005266485.1:p.His950GlnfsTer?
XM_005266430.3:c.3101dup	XP_005266487.1:p.His1034GlnfsTer?
XM_005266431.2:c.3065dup	XP_005266488.1:p.His1022GlnfsTer?
XM_005266432.2:c.2615dup	XP_005266489.1:p.His872GlnfsTer?
XM_006719837.2:c.3005dup	XP_006719900.1:p.His1002GlnfsTer?
XM_006719838.1:c.917dup	XP_006719901.1:p.His306GlnfsTer?
XM_006719839.1:c.877-1697dup	XP_006719902.1:n.877-1697dup
XM_011535117.1:c.3005dup	XP_011533419.1:p.His1002GlnfsTer?
XM_011535118.1:c.2966dup	XP_011533420.1:p.His989GlnfsTer?
XM_011535119.1:c.3061-1697dup	XP_011533421.1:n.3061-1697dup
XM_011535120.1:c.2687dup	XP_011533422.1:p.His896GlnfsTer?
XM_011535121.1:c.2731-1697dup	XP_011533423.1:n.2731-1697dup
XM_011535122.1:c.1769dup	XP_011533424.1:p.His590GlnfsTer?
XR_941601.1:n.3320dup
XR_941602.1:n.3320dup
XR_941603.1:n.3320dup
XR_941604.1:n.3320dup
NM_001330578.1:c.2867dup	NP_001317507.1:p.His956GlnfsTer?
NM_001330579.1:c.2849dup	NP_001317508.1:p.His950GlnfsTer?
XM_005266424.4:c.3005dup	XP_005266481.1:p.His1002GlnfsTer?
XM_005266430.4:c.3101dup	XP_005266487.1:p.His1034GlnfsTer?
XM_005266431.4:c.3065dup	XP_005266488.1:p.His1022GlnfsTer?
XM_006719837.3:c.3005dup	XP_006719900.1:p.His1002GlnfsTer?
XM_011535117.3:c.3005dup	XP_011533419.1:p.His1002GlnfsTer?
XM_017020627.1:c.3005dup	XP_016876116.1:p.His1002GlnfsTer?
NM_000053.4:c.3101dup MANE Select	NP_000044.2:p.His1034GlnfsTer?
NM_001005918.3:c.2480dup	NP_001005918.1:p.His827GlnfsTer?
NM_001330579.2:c.2849dup	NP_001317508.1:p.His950GlnfsTer?
NM_001243182.2:c.2768dup	NP_001230111.1:p.His923GlnfsTer?
NM_001330578.2:c.2867dup	NP_001317507.1:p.His956GlnfsTer?