Canonical Allele Identifier: CA16041670
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 370740
ClinVar RCV Id: RCV000411401
dbSNP Id: rs1057516732

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51957516del , CM000675.2:g.51957516del GRCh38
NC_000013.10:g.52531652del , CM000675.1:g.52531652del GRCh37
NC_000013.9:g.51429653del NCBI36
NG_008806.1:g.58980del

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*280+1del
ENST00000673864.2:c.*1191+1del
ENST00000674147.2:c.1961+1del
ENST00000242839.10:c.2447+1del
ENST00000344297.9:c.1961+1del
ENST00000400366.6:c.2114+1del
ENST00000448424.7:c.2195+1del
ENST00000673772.1:c.2213+1del
ENST00000674147.1:c.1517+1del
ENST00000242839.8:c.2447+1del
ENST00000344297.8:c.1961+1del
ENST00000400366.5:c.2114+1del
ENST00000400370.8:c.1286-7354del ENSP00000383221.3:n.1286-7354del
ENST00000418097.7:c.2447+1del
ENST00000448424.6:c.2213+1del
ENST00000634296.1:c.408+1del
ENST00000634308.1:c.2213+1del
ENST00000634620.1:n.3245+1del
ENST00000634810.1:n.1792+1del
ENST00000634844.1:c.2303+1del
ENST00000635406.1:n.212-11037del
NM_000053.3:c.2447+1del
NM_001005918.2:c.1961+1del
NM_001243182.1:c.2114+1del
XM_005266423.2:c.2351+1del
XM_005266424.3:c.2351+1del
XM_005266427.2:c.2213+1del
XM_005266428.1:c.2195+1del
XM_005266430.3:c.2447+1del
XM_005266431.2:c.2411+1del
XM_005266432.2:c.1961+1del
XM_006719837.2:c.2351+1del
XM_006719838.1:c.263+1del
XM_006719839.1:c.263+1del
XM_011535117.1:c.2351+1del
XM_011535118.1:c.2447+1del
XM_011535119.1:c.2447+1del
XM_011535120.1:c.2033+1del
XM_011535121.1:c.2447+1del
XM_011535122.1:c.1115+1del
XR_941601.1:n.2666+1del
XR_941602.1:n.2666+1del
XR_941603.1:n.2666+1del
XR_941604.1:n.2666+1del
NM_001330578.1:c.2213+1del
NM_001330579.1:c.2195+1del
XM_005266424.4:c.2351+1del
XM_005266430.4:c.2447+1del
XM_005266431.4:c.2411+1del
XM_006719837.3:c.2351+1del
XM_011535117.3:c.2351+1del
XM_017020627.1:c.2351+1del
NM_000053.4:c.2447+1del
NM_001005918.3:c.1961+1del
NM_001330579.2:c.2195+1del
NM_001243182.2:c.2114+1del
NM_001330578.2:c.2213+1del