Canonical Allele Identifier: CA1139663297

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 917707
• ClinVar RCV Id: RCV001174880
• dbSNP Id: rs1957038706

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937485del , CM000675.2:g.51937485del	GRCh38
NC_000013.10:g.52511621del , CM000675.1:g.52511621del	GRCh37
NC_000013.9:g.51409622del	NCBI36
NG_008806.1:g.79011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1545del	ENSP00000489512.2:n.*1545del
ENST00000673864.2:c.*2639del	ENSP00000501045.2:n.*2639del
ENST00000674147.2:c.3274del	ENSP00000500964.2:p.Ile1093SerfsTer?
ENST00000242839.10:c.3895del MANE Select	ENSP00000242839.5:p.Ile1300SerfsTer?
ENST00000344297.9:c.3274del	ENSP00000342559.5:p.Ile1093SerfsTer?
ENST00000400366.6:c.3562del	ENSP00000383217.3:p.Ile1189SerfsTer?
ENST00000448424.7:c.3643del	ENSP00000416738.3:p.Ile1216SerfsTer?
ENST00000673696.1:n.1136del
ENST00000673772.1:c.3661del	ENSP00000501168.1:p.Ile1222SerfsTer?
ENST00000673867.1:n.4034del
ENST00000673923.1:n.761del
ENST00000674147.1:c.2830del	ENSP00000500964.1:p.Ile945SerfsTer?
ENST00000242839.8:c.3895del	ENSP00000242839.4:p.Ile1300SerfsTer?
ENST00000344297.8:c.3274del	ENSP00000342559.5:p.Ile1093SerfsTer?
ENST00000400366.5:c.3562del	ENSP00000383217.3:p.Ile1189SerfsTer?
ENST00000400370.8:c.2605del	ENSP00000383221.3:p.Ile870SerfsTer?
ENST00000418097.7:c.3700del	ENSP00000393343.2:p.Ile1235SerfsTer?
ENST00000448424.6:c.3661del	ENSP00000416738.2:p.Ile1222SerfsTer?
ENST00000634296.1:c.1673del
ENST00000634308.1:c.*996del	ENSP00000489234.1:n.*996del
ENST00000634620.1:n.4639del
ENST00000634810.1:n.3240del
ENST00000634844.1:c.3751del	ENSP00000489398.1:p.Ile1252SerfsTer?
NM_000053.3:c.3895del	NP_000044.2:p.Ile1300SerfsTer?
NM_001005918.2:c.3274del	NP_001005918.1:p.Ile1093SerfsTer?
NM_001243182.1:c.3562del	NP_001230111.1:p.Ile1189SerfsTer?
XM_005266423.2:c.3799del	XP_005266480.1:p.Ile1268SerfsTer?
XM_005266424.3:c.3799del	XP_005266481.1:p.Ile1268SerfsTer?
XM_005266427.2:c.3661del	XP_005266484.1:p.Ile1222SerfsTer?
XM_005266428.1:c.3643del	XP_005266485.1:p.Ile1216SerfsTer?
XM_005266430.3:c.3895del	XP_005266487.1:p.Ile1300SerfsTer?
XM_005266431.2:c.3859del	XP_005266488.1:p.Ile1288SerfsTer?
XM_005266432.2:c.3409del	XP_005266489.1:p.Ile1138SerfsTer?
XM_006719837.2:c.3799del	XP_006719900.1:p.Ile1268SerfsTer?
XM_006719838.1:c.1711del	XP_006719901.1:p.Ile572SerfsTer?
XM_006719839.1:c.1528del	XP_006719902.1:p.Ile511SerfsTer?
XM_011535117.1:c.3799del	XP_011533419.1:p.Ile1268SerfsTer?
XM_011535118.1:c.3760del	XP_011533420.1:p.Ile1255SerfsTer?
XM_011535119.1:c.3712del	XP_011533421.1:p.Ile1239SerfsTer?
XM_011535120.1:c.3481del	XP_011533422.1:p.Ile1162SerfsTer?
XM_011535121.1:c.3382del	XP_011533423.1:p.Ile1129SerfsTer?
XM_011535122.1:c.2563del	XP_011533424.1:p.Ile856SerfsTer?
XR_941601.1:n.4114del
XR_941602.1:n.4114del
XR_941603.1:n.4114del
XR_941604.1:n.4114del
NM_001330578.1:c.3661del	NP_001317507.1:p.Ile1222SerfsTer?
NM_001330579.1:c.3643del	NP_001317508.1:p.Ile1216SerfsTer?
XM_005266424.4:c.3799del	XP_005266481.1:p.Ile1268SerfsTer?
XM_005266430.4:c.3895del	XP_005266487.1:p.Ile1300SerfsTer?
XM_005266431.4:c.3859del	XP_005266488.1:p.Ile1288SerfsTer?
XM_006719837.3:c.3799del	XP_006719900.1:p.Ile1268SerfsTer?
XM_011535117.3:c.3799del	XP_011533419.1:p.Ile1268SerfsTer?
XM_017020627.1:c.3799del	XP_016876116.1:p.Ile1268SerfsTer?
NM_000053.4:c.3895del MANE Select	NP_000044.2:p.Ile1300SerfsTer?
NM_001005918.3:c.3274del	NP_001005918.1:p.Ile1093SerfsTer?
NM_001330579.2:c.3643del	NP_001317508.1:p.Ile1216SerfsTer?
NM_001243182.2:c.3562del	NP_001230111.1:p.Ile1189SerfsTer?
NM_001330578.2:c.3661del	NP_001317507.1:p.Ile1222SerfsTer?