Canonical Allele Identifier: CA658823693

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 552929
• ClinVar RCV Id: RCV000668279
• dbSNP Id: rs1555283564
• MyVariant Identifiers: chr13:g.51937291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937291del , CM000675.2:g.51937291del	GRCh38
NC_000013.10:g.52511427del , CM000675.1:g.52511427del	GRCh37
NC_000013.9:g.51409428del	NCBI36
NG_008806.1:g.79204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1656del	ENSP00000489512.2:n.*1656del
ENST00000673864.2:c.*2750del	ENSP00000501045.2:n.*2750del
ENST00000674147.2:c.3385del	ENSP00000500964.2:p.Ile1129TyrfsTer?
ENST00000242839.10:c.4006del MANE Select	ENSP00000242839.5:p.Ile1336TyrfsTer?
ENST00000344297.9:c.3385del	ENSP00000342559.5:p.Ile1129TyrfsTer?
ENST00000400366.6:c.3673del	ENSP00000383217.3:p.Ile1225TyrfsTer?
ENST00000448424.7:c.3754del	ENSP00000416738.3:p.Ile1252TyrfsTer?
ENST00000673696.1:n.1329del
ENST00000673772.1:c.3772del	ENSP00000501168.1:p.Ile1258TyrfsTer?
ENST00000673867.1:n.4145del
ENST00000673923.1:n.872del
ENST00000674147.1:c.2941del	ENSP00000500964.1:p.Ile981TyrfsTer?
ENST00000242839.8:c.4006del	ENSP00000242839.4:p.Ile1336TyrfsTer?
ENST00000344297.8:c.3385del	ENSP00000342559.5:p.Ile1129TyrfsTer?
ENST00000400366.5:c.3673del	ENSP00000383217.3:p.Ile1225TyrfsTer?
ENST00000400370.8:c.2716del	ENSP00000383221.3:p.Ile906TyrfsTer?
ENST00000418097.7:c.3811del	ENSP00000393343.2:p.Ile1271TyrfsTer?
ENST00000448424.6:c.3772del	ENSP00000416738.2:p.Ile1258TyrfsTer?
ENST00000634296.1:c.1784del
ENST00000634308.1:c.*1107del	ENSP00000489234.1:n.*1107del
ENST00000634620.1:n.4750del
ENST00000634810.1:n.3351del
ENST00000634844.1:c.3862del	ENSP00000489398.1:p.Ile1288TyrfsTer?
NM_000053.3:c.4006del	NP_000044.2:p.Ile1336TyrfsTer?
NM_001005918.2:c.3385del	NP_001005918.1:p.Ile1129TyrfsTer?
NM_001243182.1:c.3673del	NP_001230111.1:p.Ile1225TyrfsTer?
XM_005266423.2:c.3910del	XP_005266480.1:p.Ile1304TyrfsTer?
XM_005266424.3:c.3910del	XP_005266481.1:p.Ile1304TyrfsTer?
XM_005266427.2:c.3772del	XP_005266484.1:p.Ile1258TyrfsTer?
XM_005266428.1:c.3754del	XP_005266485.1:p.Ile1252TyrfsTer?
XM_005266430.3:c.4006del	XP_005266487.1:p.Ile1336TyrfsTer?
XM_005266431.2:c.3970del	XP_005266488.1:p.Ile1324TyrfsTer?
XM_005266432.2:c.3520del	XP_005266489.1:p.Ile1174TyrfsTer?
XM_006719837.2:c.3910del	XP_006719900.1:p.Ile1304TyrfsTer?
XM_006719838.1:c.1822del	XP_006719901.1:p.Ile608TyrfsTer?
XM_006719839.1:c.1639del	XP_006719902.1:p.Ile547TyrfsTer?
XM_011535117.1:c.3910del	XP_011533419.1:p.Ile1304TyrfsTer?
XM_011535118.1:c.3871del	XP_011533420.1:p.Ile1291TyrfsTer?
XM_011535119.1:c.3823del	XP_011533421.1:p.Ile1275TyrfsTer?
XM_011535120.1:c.3592del	XP_011533422.1:p.Ile1198TyrfsTer?
XM_011535121.1:c.3493del	XP_011533423.1:p.Ile1165TyrfsTer?
XM_011535122.1:c.2674del	XP_011533424.1:p.Ile892TyrfsTer?
XR_941601.1:n.4225del
XR_941602.1:n.4225del
XR_941603.1:n.4225del
XR_941604.1:n.4225del
NM_001330578.1:c.3772del	NP_001317507.1:p.Ile1258TyrfsTer?
NM_001330579.1:c.3754del	NP_001317508.1:p.Ile1252TyrfsTer?
XM_005266424.4:c.3910del	XP_005266481.1:p.Ile1304TyrfsTer?
XM_005266430.4:c.4006del	XP_005266487.1:p.Ile1336TyrfsTer?
XM_005266431.4:c.3970del	XP_005266488.1:p.Ile1324TyrfsTer?
XM_006719837.3:c.3910del	XP_006719900.1:p.Ile1304TyrfsTer?
XM_011535117.3:c.3910del	XP_011533419.1:p.Ile1304TyrfsTer?
XM_017020627.1:c.3910del	XP_016876116.1:p.Ile1304TyrfsTer?
NM_000053.4:c.4006del MANE Select	NP_000044.2:p.Ile1336TyrfsTer?
NM_001005918.3:c.3385del	NP_001005918.1:p.Ile1129TyrfsTer?
NM_001330579.2:c.3754del	NP_001317508.1:p.Ile1252TyrfsTer?
NM_001243182.2:c.3673del	NP_001230111.1:p.Ile1225TyrfsTer?
NM_001330578.2:c.3772del	NP_001317507.1:p.Ile1258TyrfsTer?