Canonical Allele Identifier: CA2840695590

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946476dup , CM000675.2:g.51946476dup	GRCh38
NC_000013.10:g.52520612dup , CM000675.1:g.52520612dup	GRCh37
NC_000013.9:g.51418613dup	NCBI36
NG_008806.1:g.70022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*704dup	ENSP00000489512.2:n.*704dup
ENST00000673864.2:c.*1615dup	ENSP00000501045.2:n.*1615dup
ENST00000674147.2:c.2250dup	ENSP00000500964.2:p.Asn751GlnfsTer?
ENST00000242839.10:c.2871dup MANE Select	ENSP00000242839.5:p.Asn958GlnfsTer?
ENST00000344297.9:c.2250dup	ENSP00000342559.5:p.Asn751GlnfsTer?
ENST00000400366.6:c.2538dup	ENSP00000383217.3:p.Asn847GlnfsTer?
ENST00000448424.7:c.2619dup	ENSP00000416738.3:p.Asn874GlnfsTer?
ENST00000673772.1:c.2637dup	ENSP00000501168.1:p.Asn880GlnfsTer?
ENST00000673867.1:n.1018dup
ENST00000674126.1:n.3234dup
ENST00000674147.1:c.1806dup	ENSP00000500964.1:p.Asn603GlnfsTer?
ENST00000242839.8:c.2871dup	ENSP00000242839.4:p.Asn958GlnfsTer?
ENST00000344297.8:c.2250dup	ENSP00000342559.5:p.Asn751GlnfsTer?
ENST00000400366.5:c.2538dup	ENSP00000383217.3:p.Asn847GlnfsTer?
ENST00000400370.8:c.1581dup	ENSP00000383221.3:p.Asn528GlnfsTer?
ENST00000418097.7:c.2866-2182dup	ENSP00000393343.2:n.2866-2182dup
ENST00000448424.6:c.2637dup	ENSP00000416738.2:p.Asn880GlnfsTer?
ENST00000466629.1:n.91dup
ENST00000634296.1:c.832dup
ENST00000634308.1:c.2657dup	ENSP00000489234.1:p.Thr887AsnfsTer?
ENST00000634620.1:n.3615dup
ENST00000634810.1:n.2216dup
ENST00000634844.1:c.2727dup	ENSP00000489398.1:p.Asn910GlnfsTer?
ENST00000635406.1:n.217dup
NM_000053.3:c.2871dup	NP_000044.2:p.Asn958GlnfsTer?
NM_001005918.2:c.2250dup	NP_001005918.1:p.Asn751GlnfsTer?
NM_001243182.1:c.2538dup	NP_001230111.1:p.Asn847GlnfsTer?
XM_005266423.2:c.2775dup	XP_005266480.1:p.Asn926GlnfsTer?
XM_005266424.3:c.2775dup	XP_005266481.1:p.Asn926GlnfsTer?
XM_005266427.2:c.2637dup	XP_005266484.1:p.Asn880GlnfsTer?
XM_005266428.1:c.2619dup	XP_005266485.1:p.Asn874GlnfsTer?
XM_005266430.3:c.2871dup	XP_005266487.1:p.Asn958GlnfsTer?
XM_005266431.2:c.2835dup	XP_005266488.1:p.Asn946GlnfsTer?
XM_005266432.2:c.2385dup	XP_005266489.1:p.Asn796GlnfsTer?
XM_006719837.2:c.2775dup	XP_006719900.1:p.Asn926GlnfsTer?
XM_006719838.1:c.687dup	XP_006719901.1:p.Asn230GlnfsTer?
XM_006719839.1:c.687dup	XP_006719902.1:p.Asn230GlnfsTer?
XM_011535117.1:c.2775dup	XP_011533419.1:p.Asn926GlnfsTer?
XM_011535118.1:c.2736dup	XP_011533420.1:p.Asn913GlnfsTer?
XM_011535119.1:c.2871dup	XP_011533421.1:p.Asn958GlnfsTer?
XM_011535120.1:c.2457dup	XP_011533422.1:p.Asn820GlnfsTer?
XM_011535121.1:c.2730+3534dup	XP_011533423.1:n.2730+3534dup
XM_011535122.1:c.1539dup	XP_011533424.1:p.Asn514GlnfsTer?
XR_941601.1:n.3090dup
XR_941602.1:n.3090dup
XR_941603.1:n.3090dup
XR_941604.1:n.3090dup
NM_001330578.1:c.2637dup	NP_001317507.1:p.Asn880GlnfsTer?
NM_001330579.1:c.2619dup	NP_001317508.1:p.Asn874GlnfsTer?
XM_005266424.4:c.2775dup	XP_005266481.1:p.Asn926GlnfsTer?
XM_005266430.4:c.2871dup	XP_005266487.1:p.Asn958GlnfsTer?
XM_005266431.4:c.2835dup	XP_005266488.1:p.Asn946GlnfsTer?
XM_006719837.3:c.2775dup	XP_006719900.1:p.Asn926GlnfsTer?
XM_011535117.3:c.2775dup	XP_011533419.1:p.Asn926GlnfsTer?
XM_017020627.1:c.2775dup	XP_016876116.1:p.Asn926GlnfsTer?
NM_000053.4:c.2871dup MANE Select	NP_000044.2:p.Asn958GlnfsTer?
NM_001005918.3:c.2250dup	NP_001005918.1:p.Asn751GlnfsTer?
NM_001330579.2:c.2619dup	NP_001317508.1:p.Asn874GlnfsTer?
NM_001243182.2:c.2538dup	NP_001230111.1:p.Asn847GlnfsTer?
NM_001330578.2:c.2637dup	NP_001317507.1:p.Asn880GlnfsTer?