Canonical Allele Identifier: CA274483

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 189192
• ClinVar RCV Id: RCV000169628
• dbSNP Id: rs786204764
• MyVariant Identifiers: chr13:g.52534370del (hg19) ; chr13:g.51960234del (hg38)
• PubMed: PMID:14962673 ; PMID:17949296

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960237del , CM000675.2:g.51960237del	GRCh38
NC_000013.10:g.52534373del , CM000675.1:g.52534373del	GRCh37
NC_000013.9:g.51432374del	NCBI36
NG_008806.1:g.56261del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1946+1603del	ENSP00000489512.2:n.1946+1603del
ENST00000673864.2:c.*779del	ENSP00000501045.2:n.*779del
ENST00000674147.2:c.1870-2627del	ENSP00000500964.2:n.1870-2627del
ENST00000242839.10:c.2035del MANE Select	ENSP00000242839.5:p.His679ThrfsTer17
ENST00000344297.9:c.1870-2627del	ENSP00000342559.5:n.1870-2627del
ENST00000400366.6:c.1702del	ENSP00000383217.3:p.His568ThrfsTer17
ENST00000448424.7:c.1870-1690del	ENSP00000416738.3:n.1870-1690del
ENST00000673772.1:c.2035del	ENSP00000501168.1:p.His679ThrfsTer17
ENST00000674147.1:c.1426-2627del	ENSP00000500964.1:n.1426-2627del
ENST00000242839.8:c.2035del	ENSP00000242839.4:p.His679ThrfsTer17
ENST00000344297.8:c.1870-2627del	ENSP00000342559.5:n.1870-2627del
ENST00000400366.5:c.1702del	ENSP00000383217.3:p.His568ThrfsTer17
ENST00000400370.8:c.1286-10073del	ENSP00000383221.3:n.1286-10073del
ENST00000418097.7:c.2035del	ENSP00000393343.2:p.His679ThrfsTer17
ENST00000448424.6:c.2035del	ENSP00000416738.2:p.His679ThrfsTer17
ENST00000482841.6:n.1665-1690del
ENST00000634296.1:c.82+1603del
ENST00000634308.1:c.2035del	ENSP00000489234.1:p.His679ThrfsTer17
ENST00000634620.1:n.527del
ENST00000634844.1:c.2035del	ENSP00000489398.1:p.His679ThrfsTer17
ENST00000635406.1:n.212-13756del
NM_000053.3:c.2035del	NP_000044.2:p.His679ThrfsTer17
NM_001005918.2:c.1870-2627del	NP_001005918.1:n.1870-2627del
NM_001243182.1:c.1702del	NP_001230111.1:p.His568ThrfsTer17
XM_005266423.2:c.1939del	XP_005266480.1:p.His647ThrfsTer17
XM_005266424.3:c.1939del	XP_005266481.1:p.His647ThrfsTer17
XM_005266427.2:c.2035del	XP_005266484.1:p.His679ThrfsTer17
XM_005266428.1:c.1870-1690del	XP_005266485.1:n.1870-1690del
XM_005266430.3:c.2035del	XP_005266487.1:p.His679ThrfsTer17
XM_005266431.2:c.1999del	XP_005266488.1:p.His667ThrfsTer17
XM_005266432.2:c.1870-2627del	XP_005266489.1:n.1870-2627del
XM_006719837.2:c.1939del	XP_006719900.1:p.His647ThrfsTer17
XM_006719838.1:c.-64+1603del	XP_006719901.1:n.-64+1603del
XM_006719839.1:c.-64+1603del	XP_006719902.1:n.-64+1603del
XM_011535117.1:c.1939del	XP_011533419.1:p.His647ThrfsTer17
XM_011535118.1:c.2035del	XP_011533420.1:p.His679ThrfsTer17
XM_011535119.1:c.2035del	XP_011533421.1:p.His679ThrfsTer17
XM_011535120.1:c.1708-1690del	XP_011533422.1:n.1708-1690del
XM_011535121.1:c.2035del	XP_011533423.1:p.His679ThrfsTer17
XM_011535122.1:c.703del	XP_011533424.1:p.His235ThrfsTer17
XR_941601.1:n.2254del
XR_941602.1:n.2254del
XR_941603.1:n.2254del
XR_941604.1:n.2254del
NM_001330578.1:c.2035del	NP_001317507.1:p.His679ThrfsTer17
NM_001330579.1:c.1870-1690del	NP_001317508.1:n.1870-1690del
XM_005266424.4:c.1939del	XP_005266481.1:p.His647ThrfsTer17
XM_005266430.4:c.2035del	XP_005266487.1:p.His679ThrfsTer17
XM_005266431.4:c.1999del	XP_005266488.1:p.His667ThrfsTer17
XM_006719837.3:c.1939del	XP_006719900.1:p.His647ThrfsTer17
XM_011535117.3:c.1939del	XP_011533419.1:p.His647ThrfsTer17
XM_017020627.1:c.1939del	XP_016876116.1:p.His647ThrfsTer17
NM_000053.4:c.2035del MANE Select	NP_000044.2:p.His679ThrfsTer17
NM_001005918.3:c.1870-2627del	NP_001005918.1:n.1870-2627del
NM_001330579.2:c.1870-1690del	NP_001317508.1:n.1870-1690del
NM_001243182.2:c.1702del	NP_001230111.1:p.His568ThrfsTer17
NM_001330578.2:c.2035del	NP_001317507.1:p.His679ThrfsTer17