Canonical Allele Identifier: CA2695199761

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2679828
• ClinVar RCV Id: RCV003464966

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941092dup , CM000675.2:g.51941092dup	GRCh38
NC_000013.10:g.52515228dup , CM000675.1:g.52515228dup	GRCh37
NC_000013.9:g.51413229dup	NCBI36
NG_008806.1:g.75403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1195dup	ENSP00000489512.2:n.*1195dup
ENST00000673864.2:c.*2289dup	ENSP00000501045.2:n.*2289dup
ENST00000674147.2:c.2924dup	ENSP00000500964.2:p.Ala976GlyfsTer3
ENST00000242839.10:c.3545dup MANE Select	ENSP00000242839.5:p.Ala1183GlyfsTer3
ENST00000344297.9:c.2924dup	ENSP00000342559.5:p.Ala976GlyfsTer3
ENST00000400366.6:c.3212dup	ENSP00000383217.3:p.Ala1072GlyfsTer3
ENST00000448424.7:c.3293dup	ENSP00000416738.3:p.Ala1099GlyfsTer3
ENST00000673772.1:c.3311dup	ENSP00000501168.1:p.Ala1105GlyfsTer3
ENST00000673867.1:n.3684dup
ENST00000674126.1:n.3908dup
ENST00000674147.1:c.2480dup	ENSP00000500964.1:p.Ala828GlyfsTer3
ENST00000242839.8:c.3545dup	ENSP00000242839.4:p.Ala1183GlyfsTer3
ENST00000344297.8:c.2924dup	ENSP00000342559.5:p.Ala976GlyfsTer3
ENST00000400366.5:c.3212dup	ENSP00000383217.3:p.Ala1072GlyfsTer3
ENST00000400370.8:c.2255dup	ENSP00000383221.3:p.Ala753GlyfsTer3
ENST00000418097.7:c.3350dup	ENSP00000393343.2:p.Ala1118GlyfsTer3
ENST00000448424.6:c.3311dup	ENSP00000416738.2:p.Ala1105GlyfsTer3
ENST00000634296.1:c.1323dup
ENST00000634308.1:c.*646dup	ENSP00000489234.1:n.*646dup
ENST00000634620.1:n.4289dup
ENST00000634810.1:n.2890dup
ENST00000634844.1:c.3401dup	ENSP00000489398.1:p.Ala1135GlyfsTer3
NM_000053.3:c.3545dup	NP_000044.2:p.Ala1183GlyfsTer3
NM_001005918.2:c.2924dup	NP_001005918.1:p.Ala976GlyfsTer3
NM_001243182.1:c.3212dup	NP_001230111.1:p.Ala1072GlyfsTer3
XM_005266423.2:c.3449dup	XP_005266480.1:p.Ala1151GlyfsTer3
XM_005266424.3:c.3449dup	XP_005266481.1:p.Ala1151GlyfsTer3
XM_005266427.2:c.3311dup	XP_005266484.1:p.Ala1105GlyfsTer3
XM_005266428.1:c.3293dup	XP_005266485.1:p.Ala1099GlyfsTer3
XM_005266430.3:c.3545dup	XP_005266487.1:p.Ala1183GlyfsTer3
XM_005266431.2:c.3509dup	XP_005266488.1:p.Ala1171GlyfsTer3
XM_005266432.2:c.3059dup	XP_005266489.1:p.Ala1021GlyfsTer3
XM_006719837.2:c.3449dup	XP_006719900.1:p.Ala1151GlyfsTer3
XM_006719838.1:c.1361dup	XP_006719901.1:p.Ala455GlyfsTer3
XM_006719839.1:c.1178dup	XP_006719902.1:p.Ala394GlyfsTer3
XM_011535117.1:c.3449dup	XP_011533419.1:p.Ala1151GlyfsTer3
XM_011535118.1:c.3410dup	XP_011533420.1:p.Ala1138GlyfsTer3
XM_011535119.1:c.3362dup	XP_011533421.1:p.Ala1122GlyfsTer3
XM_011535120.1:c.3131dup	XP_011533422.1:p.Ala1045GlyfsTer3
XM_011535121.1:c.3032dup	XP_011533423.1:p.Ala1012GlyfsTer3
XM_011535122.1:c.2213dup	XP_011533424.1:p.Ala739GlyfsTer3
XR_941601.1:n.3764dup
XR_941602.1:n.3764dup
XR_941603.1:n.3764dup
XR_941604.1:n.3764dup
NM_001330578.1:c.3311dup	NP_001317507.1:p.Ala1105GlyfsTer3
NM_001330579.1:c.3293dup	NP_001317508.1:p.Ala1099GlyfsTer3
XM_005266424.4:c.3449dup	XP_005266481.1:p.Ala1151GlyfsTer3
XM_005266430.4:c.3545dup	XP_005266487.1:p.Ala1183GlyfsTer3
XM_005266431.4:c.3509dup	XP_005266488.1:p.Ala1171GlyfsTer3
XM_006719837.3:c.3449dup	XP_006719900.1:p.Ala1151GlyfsTer3
XM_011535117.3:c.3449dup	XP_011533419.1:p.Ala1151GlyfsTer3
XM_017020627.1:c.3449dup	XP_016876116.1:p.Ala1151GlyfsTer3
NM_000053.4:c.3545dup MANE Select	NP_000044.2:p.Ala1183GlyfsTer3
NM_001005918.3:c.2924dup	NP_001005918.1:p.Ala976GlyfsTer3
NM_001330579.2:c.3293dup	NP_001317508.1:p.Ala1099GlyfsTer3
NM_001243182.2:c.3212dup	NP_001230111.1:p.Ala1072GlyfsTer3
NM_001330578.2:c.3311dup	NP_001317507.1:p.Ala1105GlyfsTer3