Canonical Allele Identifier: CA2695218793

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950146_51950149dup , CM000675.2:g.51950146_51950149dup	GRCh38
NC_000013.10:g.52524282_52524285dup , CM000675.1:g.52524282_52524285dup	GRCh37
NC_000013.9:g.51422283_51422286dup	NCBI36
NG_008806.1:g.66348_66351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*423_*426dup	ENSP00000489512.2:n.*423_*426dup
ENST00000673864.2:c.*1334_*1337dup	ENSP00000501045.2:n.*1334_*1337dup
ENST00000674147.2:c.2104_2107dup	ENSP00000500964.2:p.Thr703SerfsTer3
ENST00000242839.10:c.2590_2593dup MANE Select	ENSP00000242839.5:p.Thr865SerfsTer3
ENST00000344297.9:c.2104_2107dup	ENSP00000342559.5:p.Thr703SerfsTer3
ENST00000400366.6:c.2257_2260dup	ENSP00000383217.3:p.Thr754SerfsTer3
ENST00000448424.7:c.2338_2341dup	ENSP00000416738.3:p.Thr781SerfsTer3
ENST00000673772.1:c.2356_2359dup	ENSP00000501168.1:p.Thr787SerfsTer3
ENST00000674147.1:c.1660_1663dup	ENSP00000500964.1:p.Thr555SerfsTer3
ENST00000242839.8:c.2590_2593dup	ENSP00000242839.4:p.Thr865SerfsTer3
ENST00000344297.8:c.2104_2107dup	ENSP00000342559.5:p.Thr703SerfsTer3
ENST00000400366.5:c.2257_2260dup	ENSP00000383217.3:p.Thr754SerfsTer3
ENST00000400370.8:c.1300_1303dup	ENSP00000383221.3:p.Thr435SerfsTer3
ENST00000418097.7:c.2590_2593dup	ENSP00000393343.2:p.Thr865SerfsTer3
ENST00000448424.6:c.2356_2359dup	ENSP00000416738.2:p.Thr787SerfsTer3
ENST00000634296.1:c.551_554dup
ENST00000634308.1:c.2356_2359dup	ENSP00000489234.1:p.Thr787SerfsTer3
ENST00000634620.1:n.3388_3391dup
ENST00000634810.1:n.1935_1938dup
ENST00000634844.1:c.2446_2449dup	ENSP00000489398.1:p.Thr817SerfsTer3
ENST00000635406.1:n.212-3669_212-3666dup
NM_000053.3:c.2590_2593dup	NP_000044.2:p.Thr865SerfsTer3
NM_001005918.2:c.2104_2107dup	NP_001005918.1:p.Thr703SerfsTer3
NM_001243182.1:c.2257_2260dup	NP_001230111.1:p.Thr754SerfsTer3
XM_005266423.2:c.2494_2497dup	XP_005266480.1:p.Thr833SerfsTer3
XM_005266424.3:c.2494_2497dup	XP_005266481.1:p.Thr833SerfsTer3
XM_005266427.2:c.2356_2359dup	XP_005266484.1:p.Thr787SerfsTer3
XM_005266428.1:c.2338_2341dup	XP_005266485.1:p.Thr781SerfsTer3
XM_005266430.3:c.2590_2593dup	XP_005266487.1:p.Thr865SerfsTer3
XM_005266431.2:c.2554_2557dup	XP_005266488.1:p.Thr853SerfsTer3
XM_005266432.2:c.2104_2107dup	XP_005266489.1:p.Thr703SerfsTer3
XM_006719837.2:c.2494_2497dup	XP_006719900.1:p.Thr833SerfsTer3
XM_006719838.1:c.406_409dup	XP_006719901.1:p.Thr137SerfsTer3
XM_006719839.1:c.406_409dup	XP_006719902.1:p.Thr137SerfsTer3
XM_011535117.1:c.2494_2497dup	XP_011533419.1:p.Thr833SerfsTer3
XM_011535118.1:c.2590_2593dup	XP_011533420.1:p.Thr865SerfsTer3
XM_011535119.1:c.2590_2593dup	XP_011533421.1:p.Thr865SerfsTer3
XM_011535120.1:c.2176_2179dup	XP_011533422.1:p.Thr727SerfsTer3
XM_011535121.1:c.2590_2593dup	XP_011533423.1:p.Thr865SerfsTer3
XM_011535122.1:c.1258_1261dup	XP_011533424.1:p.Thr421SerfsTer3
XR_941601.1:n.2809_2812dup
XR_941602.1:n.2809_2812dup
XR_941603.1:n.2809_2812dup
XR_941604.1:n.2809_2812dup
NM_001330578.1:c.2356_2359dup	NP_001317507.1:p.Thr787SerfsTer3
NM_001330579.1:c.2338_2341dup	NP_001317508.1:p.Thr781SerfsTer3
XM_005266424.4:c.2494_2497dup	XP_005266481.1:p.Thr833SerfsTer3
XM_005266430.4:c.2590_2593dup	XP_005266487.1:p.Thr865SerfsTer3
XM_005266431.4:c.2554_2557dup	XP_005266488.1:p.Thr853SerfsTer3
XM_006719837.3:c.2494_2497dup	XP_006719900.1:p.Thr833SerfsTer3
XM_011535117.3:c.2494_2497dup	XP_011533419.1:p.Thr833SerfsTer3
XM_017020627.1:c.2494_2497dup	XP_016876116.1:p.Thr833SerfsTer3
NM_000053.4:c.2590_2593dup MANE Select	NP_000044.2:p.Thr865SerfsTer3
NM_001005918.3:c.2104_2107dup	NP_001005918.1:p.Thr703SerfsTer3
NM_001330579.2:c.2338_2341dup	NP_001317508.1:p.Thr781SerfsTer3
NM_001243182.2:c.2257_2260dup	NP_001230111.1:p.Thr754SerfsTer3
NM_001330578.2:c.2356_2359dup	NP_001317507.1:p.Thr787SerfsTer3