Canonical Allele Identifier: CA274055

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 188862
• ClinVar RCV Id: RCV000169214 ; RCV002274945
• dbSNP Id: rs779904655
• ExAC: 13:52534389 CAGCATAT / C
• gnomAD v2: 13-52534389-CAGCATAT-C
• gnomAD v3: 13-51960253-CAGCATAT-C
• gnomAD v4: 13-51960253-CAGCATAT-C
• MyVariant Identifiers: chr13:g.52534390_52534396del (hg19) ; chr13:g.52534390_52534396delAGCATAT (hg19) ; chr13:g.51960254_51960260del (hg38)
• PubMed: PMID:7726170 ; PMID:8298639 ; PMID:10502777

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960256_51960262del , CM000675.2:g.51960256_51960262del	GRCh38
NC_000013.10:g.52534392_52534398del , CM000675.1:g.52534392_52534398del	GRCh37
NC_000013.9:g.51432393_51432399del	NCBI36
NG_008806.1:g.56235_56241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1946+1577_1946+1583del	ENSP00000489512.2:n.1946+1577_1946+1583del
ENST00000673864.2:c.*753_*759del	ENSP00000501045.2:n.*753_*759del
ENST00000674147.2:c.1870-2653_1870-2647del	ENSP00000500964.2:n.1870-2653_1870-2647del
ENST00000242839.10:c.2009_2015del MANE Select	ENSP00000242839.5:p.Tyr670Ter
ENST00000344297.9:c.1870-2653_1870-2647del	ENSP00000342559.5:n.1870-2653_1870-2647del
ENST00000400366.6:c.1676_1682del	ENSP00000383217.3:p.Tyr559Ter
ENST00000448424.7:c.1870-1716_1870-1710del	ENSP00000416738.3:n.1870-1716_1870-1710del
ENST00000673772.1:c.2009_2015del	ENSP00000501168.1:p.Tyr670Ter
ENST00000674147.1:c.1426-2653_1426-2647del	ENSP00000500964.1:n.1426-2653_1426-2647del
ENST00000242839.8:c.2009_2015del	ENSP00000242839.4:p.Tyr670Ter
ENST00000344297.8:c.1870-2653_1870-2647del	ENSP00000342559.5:n.1870-2653_1870-2647del
ENST00000400366.5:c.1676_1682del	ENSP00000383217.3:p.Tyr559Ter
ENST00000400370.8:c.1286-10099_1286-10093del	ENSP00000383221.3:n.1286-10099_1286-10093del
ENST00000418097.7:c.2009_2015del	ENSP00000393343.2:p.Tyr670Ter
ENST00000448424.6:c.2009_2015del	ENSP00000416738.2:p.Tyr670Ter
ENST00000482841.6:n.1665-1716_1665-1710del
ENST00000634296.1:c.82+1577_82+1583del
ENST00000634308.1:c.2009_2015del	ENSP00000489234.1:p.Tyr670Ter
ENST00000634620.1:n.501_507del
ENST00000634844.1:c.2009_2015del	ENSP00000489398.1:p.Tyr670Ter
ENST00000635406.1:n.212-13782_212-13776del
NM_000053.3:c.2009_2015del	NP_000044.2:p.Tyr670Ter
NM_001005918.2:c.1870-2653_1870-2647del	NP_001005918.1:n.1870-2653_1870-2647del
NM_001243182.1:c.1676_1682del	NP_001230111.1:p.Tyr559Ter
XM_005266423.2:c.1913_1919del	XP_005266480.1:p.Tyr638Ter
XM_005266424.3:c.1913_1919del	XP_005266481.1:p.Tyr638Ter
XM_005266427.2:c.2009_2015del	XP_005266484.1:p.Tyr670Ter
XM_005266428.1:c.1870-1716_1870-1710del	XP_005266485.1:n.1870-1716_1870-1710del
XM_005266430.3:c.2009_2015del	XP_005266487.1:p.Tyr670Ter
XM_005266431.2:c.1973_1979del	XP_005266488.1:p.Tyr658Ter
XM_005266432.2:c.1870-2653_1870-2647del	XP_005266489.1:n.1870-2653_1870-2647del
XM_006719837.2:c.1913_1919del	XP_006719900.1:p.Tyr638Ter
XM_006719838.1:c.-64+1577_-64+1583del	XP_006719901.1:n.-64+1577_-64+1583del
XM_006719839.1:c.-64+1577_-64+1583del	XP_006719902.1:n.-64+1577_-64+1583del
XM_011535117.1:c.1913_1919del	XP_011533419.1:p.Tyr638Ter
XM_011535118.1:c.2009_2015del	XP_011533420.1:p.Tyr670Ter
XM_011535119.1:c.2009_2015del	XP_011533421.1:p.Tyr670Ter
XM_011535120.1:c.1708-1716_1708-1710del	XP_011533422.1:n.1708-1716_1708-1710del
XM_011535121.1:c.2009_2015del	XP_011533423.1:p.Tyr670Ter
XM_011535122.1:c.677_683del	XP_011533424.1:p.Tyr226Ter
XR_941601.1:n.2228_2234del
XR_941602.1:n.2228_2234del
XR_941603.1:n.2228_2234del
XR_941604.1:n.2228_2234del
NM_001330578.1:c.2009_2015del	NP_001317507.1:p.Tyr670Ter
NM_001330579.1:c.1870-1716_1870-1710del	NP_001317508.1:n.1870-1716_1870-1710del
XM_005266424.4:c.1913_1919del	XP_005266481.1:p.Tyr638Ter
XM_005266430.4:c.2009_2015del	XP_005266487.1:p.Tyr670Ter
XM_005266431.4:c.1973_1979del	XP_005266488.1:p.Tyr658Ter
XM_006719837.3:c.1913_1919del	XP_006719900.1:p.Tyr638Ter
XM_011535117.3:c.1913_1919del	XP_011533419.1:p.Tyr638Ter
XM_017020627.1:c.1913_1919del	XP_016876116.1:p.Tyr638Ter
NM_000053.4:c.2009_2015del MANE Select	NP_000044.2:p.Tyr670Ter
NM_001005918.3:c.1870-2653_1870-2647del	NP_001005918.1:n.1870-2653_1870-2647del
NM_001330579.2:c.1870-1716_1870-1710del	NP_001317508.1:n.1870-1716_1870-1710del
NM_001243182.2:c.1676_1682del	NP_001230111.1:p.Tyr559Ter
NM_001330578.2:c.2009_2015del	NP_001317507.1:p.Tyr670Ter