Canonical Allele Identifier: CA2575420561

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941169dup , CM000675.2:g.51941169dup	GRCh38
NC_000013.10:g.52515305dup , CM000675.1:g.52515305dup	GRCh37
NC_000013.9:g.51413306dup	NCBI36
NG_008806.1:g.75326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1118dup	ENSP00000489512.2:n.*1118dup
ENST00000673864.2:c.*2212dup	ENSP00000501045.2:n.*2212dup
ENST00000674147.2:c.2847dup	ENSP00000500964.2:p.Asn950GlnfsTer7
ENST00000242839.10:c.3468dup MANE Select	ENSP00000242839.5:p.Asn1157GlnfsTer7
ENST00000344297.9:c.2847dup	ENSP00000342559.5:p.Asn950GlnfsTer7
ENST00000400366.6:c.3135dup	ENSP00000383217.3:p.Asn1046GlnfsTer7
ENST00000448424.7:c.3216dup	ENSP00000416738.3:p.Asn1073GlnfsTer7
ENST00000673772.1:c.3234dup	ENSP00000501168.1:p.Asn1079GlnfsTer7
ENST00000673867.1:n.3607dup
ENST00000674126.1:n.3831dup
ENST00000674147.1:c.2403dup	ENSP00000500964.1:p.Asn802GlnfsTer7
ENST00000242839.8:c.3468dup	ENSP00000242839.4:p.Asn1157GlnfsTer7
ENST00000344297.8:c.2847dup	ENSP00000342559.5:p.Asn950GlnfsTer7
ENST00000400366.5:c.3135dup	ENSP00000383217.3:p.Asn1046GlnfsTer7
ENST00000400370.8:c.2178dup	ENSP00000383221.3:p.Asn727GlnfsTer7
ENST00000418097.7:c.3273dup	ENSP00000393343.2:p.Asn1092GlnfsTer7
ENST00000448424.6:c.3234dup	ENSP00000416738.2:p.Asn1079GlnfsTer7
ENST00000634296.1:c.1246dup
ENST00000634308.1:c.*569dup	ENSP00000489234.1:n.*569dup
ENST00000634620.1:n.4212dup
ENST00000634810.1:n.2813dup
ENST00000634844.1:c.3324dup	ENSP00000489398.1:p.Asn1109GlnfsTer7
NM_000053.3:c.3468dup	NP_000044.2:p.Asn1157GlnfsTer7
NM_001005918.2:c.2847dup	NP_001005918.1:p.Asn950GlnfsTer7
NM_001243182.1:c.3135dup	NP_001230111.1:p.Asn1046GlnfsTer7
XM_005266423.2:c.3372dup	XP_005266480.1:p.Asn1125GlnfsTer7
XM_005266424.3:c.3372dup	XP_005266481.1:p.Asn1125GlnfsTer7
XM_005266427.2:c.3234dup	XP_005266484.1:p.Asn1079GlnfsTer7
XM_005266428.1:c.3216dup	XP_005266485.1:p.Asn1073GlnfsTer7
XM_005266430.3:c.3468dup	XP_005266487.1:p.Asn1157GlnfsTer7
XM_005266431.2:c.3432dup	XP_005266488.1:p.Asn1145GlnfsTer7
XM_005266432.2:c.2982dup	XP_005266489.1:p.Asn995GlnfsTer7
XM_006719837.2:c.3372dup	XP_006719900.1:p.Asn1125GlnfsTer7
XM_006719838.1:c.1284dup	XP_006719901.1:p.Asn429GlnfsTer7
XM_006719839.1:c.1101dup	XP_006719902.1:p.Asn368GlnfsTer7
XM_011535117.1:c.3372dup	XP_011533419.1:p.Asn1125GlnfsTer7
XM_011535118.1:c.3333dup	XP_011533420.1:p.Asn1112GlnfsTer7
XM_011535119.1:c.3285dup	XP_011533421.1:p.Asn1096GlnfsTer7
XM_011535120.1:c.3054dup	XP_011533422.1:p.Asn1019GlnfsTer7
XM_011535121.1:c.2955dup	XP_011533423.1:p.Asn986GlnfsTer7
XM_011535122.1:c.2136dup	XP_011533424.1:p.Asn713GlnfsTer7
XR_941601.1:n.3687dup
XR_941602.1:n.3687dup
XR_941603.1:n.3687dup
XR_941604.1:n.3687dup
NM_001330578.1:c.3234dup	NP_001317507.1:p.Asn1079GlnfsTer7
NM_001330579.1:c.3216dup	NP_001317508.1:p.Asn1073GlnfsTer7
XM_005266424.4:c.3372dup	XP_005266481.1:p.Asn1125GlnfsTer7
XM_005266430.4:c.3468dup	XP_005266487.1:p.Asn1157GlnfsTer7
XM_005266431.4:c.3432dup	XP_005266488.1:p.Asn1145GlnfsTer7
XM_006719837.3:c.3372dup	XP_006719900.1:p.Asn1125GlnfsTer7
XM_011535117.3:c.3372dup	XP_011533419.1:p.Asn1125GlnfsTer7
XM_017020627.1:c.3372dup	XP_016876116.1:p.Asn1125GlnfsTer7
NM_000053.4:c.3468dup MANE Select	NP_000044.2:p.Asn1157GlnfsTer7
NM_001005918.3:c.2847dup	NP_001005918.1:p.Asn950GlnfsTer7
NM_001330579.2:c.3216dup	NP_001317508.1:p.Asn1073GlnfsTer7
NM_001243182.2:c.3135dup	NP_001230111.1:p.Asn1046GlnfsTer7
NM_001330578.2:c.3234dup	NP_001317507.1:p.Asn1079GlnfsTer7