Canonical Allele Identifier: CA10604343

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 282915
• ClinVar RCV Id: RCV000333158 ; RCV000725177
• dbSNP Id: rs886042519
• MyVariant Identifiers: chr13:g.52513222del (hg19) ; chr13:g.51939086del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939090del , CM000675.2:g.51939090del	GRCh38
NC_000013.10:g.52513226del , CM000675.1:g.52513226del	GRCh37
NC_000013.9:g.51411227del	NCBI36
NG_008806.1:g.77409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1314del	ENSP00000489512.2:n.*1314del
ENST00000673864.2:c.*2408del	ENSP00000501045.2:n.*2408del
ENST00000674147.2:c.3043del	ENSP00000500964.2:p.Asp1015ThrfsTer?
ENST00000242839.10:c.3664del MANE Select	ENSP00000242839.5:p.Asp1222ThrfsTer?
ENST00000344297.9:c.3043del	ENSP00000342559.5:p.Asp1015ThrfsTer?
ENST00000400366.6:c.3331del	ENSP00000383217.3:p.Asp1111ThrfsTer?
ENST00000448424.7:c.3412del	ENSP00000416738.3:p.Asp1138ThrfsTer?
ENST00000673696.1:n.905del
ENST00000673772.1:c.3430del	ENSP00000501168.1:p.Asp1144ThrfsTer?
ENST00000673867.1:n.3803del
ENST00000673923.1:n.530del
ENST00000674147.1:c.2599del	ENSP00000500964.1:p.Asp867ThrfsTer?
ENST00000242839.8:c.3664del	ENSP00000242839.4:p.Asp1222ThrfsTer?
ENST00000344297.8:c.3043del	ENSP00000342559.5:p.Asp1015ThrfsTer?
ENST00000400366.5:c.3331del	ENSP00000383217.3:p.Asp1111ThrfsTer?
ENST00000400370.8:c.2374del	ENSP00000383221.3:p.Asp792ThrfsTer?
ENST00000418097.7:c.3469del	ENSP00000393343.2:p.Asp1157ThrfsTer?
ENST00000448424.6:c.3430del	ENSP00000416738.2:p.Asp1144ThrfsTer?
ENST00000634296.1:c.1442del
ENST00000634308.1:c.*765del	ENSP00000489234.1:n.*765del
ENST00000634620.1:n.4408del
ENST00000634810.1:n.3009del
ENST00000634844.1:c.3520del	ENSP00000489398.1:p.Asp1174ThrfsTer?
NM_000053.3:c.3664del	NP_000044.2:p.Asp1222ThrfsTer?
NM_001005918.2:c.3043del	NP_001005918.1:p.Asp1015ThrfsTer?
NM_001243182.1:c.3331del	NP_001230111.1:p.Asp1111ThrfsTer?
XM_005266423.2:c.3568del	XP_005266480.1:p.Asp1190ThrfsTer?
XM_005266424.3:c.3568del	XP_005266481.1:p.Asp1190ThrfsTer?
XM_005266427.2:c.3430del	XP_005266484.1:p.Asp1144ThrfsTer?
XM_005266428.1:c.3412del	XP_005266485.1:p.Asp1138ThrfsTer?
XM_005266430.3:c.3664del	XP_005266487.1:p.Asp1222ThrfsTer?
XM_005266431.2:c.3628del	XP_005266488.1:p.Asp1210ThrfsTer?
XM_005266432.2:c.3178del	XP_005266489.1:p.Asp1060ThrfsTer?
XM_006719837.2:c.3568del	XP_006719900.1:p.Asp1190ThrfsTer?
XM_006719838.1:c.1480del	XP_006719901.1:p.Asp494ThrfsTer?
XM_006719839.1:c.1297del	XP_006719902.1:p.Asp433ThrfsTer?
XM_011535117.1:c.3568del	XP_011533419.1:p.Asp1190ThrfsTer?
XM_011535118.1:c.3529del	XP_011533420.1:p.Asp1177ThrfsTer?
XM_011535119.1:c.3481del	XP_011533421.1:p.Asp1161ThrfsTer?
XM_011535120.1:c.3250del	XP_011533422.1:p.Asp1084ThrfsTer?
XM_011535121.1:c.3151del	XP_011533423.1:p.Asp1051ThrfsTer?
XM_011535122.1:c.2332del	XP_011533424.1:p.Asp778ThrfsTer?
XR_941601.1:n.3883del
XR_941602.1:n.3883del
XR_941603.1:n.3883del
XR_941604.1:n.3883del
NM_001330578.1:c.3430del	NP_001317507.1:p.Asp1144ThrfsTer?
NM_001330579.1:c.3412del	NP_001317508.1:p.Asp1138ThrfsTer?
XM_005266424.4:c.3568del	XP_005266481.1:p.Asp1190ThrfsTer?
XM_005266430.4:c.3664del	XP_005266487.1:p.Asp1222ThrfsTer?
XM_005266431.4:c.3628del	XP_005266488.1:p.Asp1210ThrfsTer?
XM_006719837.3:c.3568del	XP_006719900.1:p.Asp1190ThrfsTer?
XM_011535117.3:c.3568del	XP_011533419.1:p.Asp1190ThrfsTer?
XM_017020627.1:c.3568del	XP_016876116.1:p.Asp1190ThrfsTer?
NM_000053.4:c.3664del MANE Select	NP_000044.2:p.Asp1222ThrfsTer?
NM_001005918.3:c.3043del	NP_001005918.1:p.Asp1015ThrfsTer?
NM_001330579.2:c.3412del	NP_001317508.1:p.Asp1138ThrfsTer?
NM_001243182.2:c.3331del	NP_001230111.1:p.Asp1111ThrfsTer?
NM_001330578.2:c.3430del	NP_001317507.1:p.Asp1144ThrfsTer?