Canonical Allele Identifier: CA6988669

Gene: ATP7B

Linked Data

• dbSNP Id: rs771202253
• ExAC: 13:52515263 TG / T
• gnomAD v2: 13-52515263-TG-T
• gnomAD v4: 13-51941127-TG-T
• MyVariant Identifiers: chr13:g.52515264del (hg19) ; chr13:g.51941128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941128del , CM000675.2:g.51941128del	GRCh38
NC_000013.10:g.52515264del , CM000675.1:g.52515264del	GRCh37
NC_000013.9:g.51413265del	NCBI36
NG_008806.1:g.75367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1159del	ENSP00000489512.2:n.*1159del
ENST00000673864.2:c.*2253del	ENSP00000501045.2:n.*2253del
ENST00000674147.2:c.2888del	ENSP00000500964.2:p.Thr963LysfsTer5
ENST00000242839.10:c.3509del MANE Select	ENSP00000242839.5:p.Thr1170LysfsTer5
ENST00000344297.9:c.2888del	ENSP00000342559.5:p.Thr963LysfsTer5
ENST00000400366.6:c.3176del	ENSP00000383217.3:p.Thr1059LysfsTer5
ENST00000448424.7:c.3257del	ENSP00000416738.3:p.Thr1086LysfsTer5
ENST00000673772.1:c.3275del	ENSP00000501168.1:p.Thr1092LysfsTer5
ENST00000673867.1:n.3648del
ENST00000674126.1:n.3872del
ENST00000674147.1:c.2444del	ENSP00000500964.1:p.Thr815LysfsTer5
ENST00000242839.8:c.3509del	ENSP00000242839.4:p.Thr1170LysfsTer5
ENST00000344297.8:c.2888del	ENSP00000342559.5:p.Thr963LysfsTer5
ENST00000400366.5:c.3176del	ENSP00000383217.3:p.Thr1059LysfsTer5
ENST00000400370.8:c.2219del	ENSP00000383221.3:p.Thr740LysfsTer5
ENST00000418097.7:c.3314del	ENSP00000393343.2:p.Thr1105LysfsTer5
ENST00000448424.6:c.3275del	ENSP00000416738.2:p.Thr1092LysfsTer5
ENST00000634296.1:c.1287del
ENST00000634308.1:c.*610del	ENSP00000489234.1:n.*610del
ENST00000634620.1:n.4253del
ENST00000634810.1:n.2854del
ENST00000634844.1:c.3365del	ENSP00000489398.1:p.Thr1122LysfsTer5
NM_000053.3:c.3509del	NP_000044.2:p.Thr1170LysfsTer5
NM_001005918.2:c.2888del	NP_001005918.1:p.Thr963LysfsTer5
NM_001243182.1:c.3176del	NP_001230111.1:p.Thr1059LysfsTer5
XM_005266423.2:c.3413del	XP_005266480.1:p.Thr1138LysfsTer5
XM_005266424.3:c.3413del	XP_005266481.1:p.Thr1138LysfsTer5
XM_005266427.2:c.3275del	XP_005266484.1:p.Thr1092LysfsTer5
XM_005266428.1:c.3257del	XP_005266485.1:p.Thr1086LysfsTer5
XM_005266430.3:c.3509del	XP_005266487.1:p.Thr1170LysfsTer5
XM_005266431.2:c.3473del	XP_005266488.1:p.Thr1158LysfsTer5
XM_005266432.2:c.3023del	XP_005266489.1:p.Thr1008LysfsTer5
XM_006719837.2:c.3413del	XP_006719900.1:p.Thr1138LysfsTer5
XM_006719838.1:c.1325del	XP_006719901.1:p.Thr442LysfsTer5
XM_006719839.1:c.1142del	XP_006719902.1:p.Thr381LysfsTer5
XM_011535117.1:c.3413del	XP_011533419.1:p.Thr1138LysfsTer5
XM_011535118.1:c.3374del	XP_011533420.1:p.Thr1125LysfsTer5
XM_011535119.1:c.3326del	XP_011533421.1:p.Thr1109LysfsTer5
XM_011535120.1:c.3095del	XP_011533422.1:p.Thr1032LysfsTer5
XM_011535121.1:c.2996del	XP_011533423.1:p.Thr999LysfsTer5
XM_011535122.1:c.2177del	XP_011533424.1:p.Thr726LysfsTer5
XR_941601.1:n.3728del
XR_941602.1:n.3728del
XR_941603.1:n.3728del
XR_941604.1:n.3728del
NM_001330578.1:c.3275del	NP_001317507.1:p.Thr1092LysfsTer5
NM_001330579.1:c.3257del	NP_001317508.1:p.Thr1086LysfsTer5
XM_005266424.4:c.3413del	XP_005266481.1:p.Thr1138LysfsTer5
XM_005266430.4:c.3509del	XP_005266487.1:p.Thr1170LysfsTer5
XM_005266431.4:c.3473del	XP_005266488.1:p.Thr1158LysfsTer5
XM_006719837.3:c.3413del	XP_006719900.1:p.Thr1138LysfsTer5
XM_011535117.3:c.3413del	XP_011533419.1:p.Thr1138LysfsTer5
XM_017020627.1:c.3413del	XP_016876116.1:p.Thr1138LysfsTer5
NM_000053.4:c.3509del MANE Select	NP_000044.2:p.Thr1170LysfsTer5
NM_001005918.3:c.2888del	NP_001005918.1:p.Thr963LysfsTer5
NM_001330579.2:c.3257del	NP_001317508.1:p.Thr1086LysfsTer5
NM_001243182.2:c.3176del	NP_001230111.1:p.Thr1059LysfsTer5
NM_001330578.2:c.3275del	NP_001317507.1:p.Thr1092LysfsTer5