Canonical Allele Identifier: CA2091564158

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957517843

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944256_51944261dup , CM000675.2:g.51944256_51944261dup	GRCh38
NC_000013.10:g.52518392_52518397dup , CM000675.1:g.52518392_52518397dup	GRCh37
NC_000013.9:g.51416393_51416398dup	NCBI36
NG_008806.1:g.72237_72242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1704_*894-1699dup	ENSP00000489512.2:n.*894-1704_*894-1699dup
ENST00000673864.2:c.*1838_*1843dup	ENSP00000501045.2:n.*1838_*1843dup
ENST00000674147.2:c.2473_2478dup	ENSP00000500964.2:p.Thr826_His827insIleThr
ENST00000242839.10:c.3094_3099dup MANE Select	ENSP00000242839.5:p.Thr1033_His1034insIleThr
ENST00000344297.9:c.2473_2478dup	ENSP00000342559.5:p.Thr826_His827insIleThr
ENST00000400366.6:c.2761_2766dup	ENSP00000383217.3:p.Thr922_His923insIleThr
ENST00000448424.7:c.2842_2847dup	ENSP00000416738.3:p.Thr949_His950insIleThr
ENST00000673772.1:c.2860_2865dup	ENSP00000501168.1:p.Thr955_His956insIleThr
ENST00000673867.1:n.3233_3238dup
ENST00000674126.1:n.3457_3462dup
ENST00000674147.1:c.2029_2034dup	ENSP00000500964.1:p.Thr678_His679insIleThr
ENST00000242839.8:c.3094_3099dup	ENSP00000242839.4:p.Thr1033_His1034insIleThr
ENST00000344297.8:c.2473_2478dup	ENSP00000342559.5:p.Thr826_His827insIleThr
ENST00000400366.5:c.2761_2766dup	ENSP00000383217.3:p.Thr922_His923insIleThr
ENST00000400370.8:c.1804_1809dup	ENSP00000383221.3:p.Thr603_His604insIleThr
ENST00000418097.7:c.2899_2904dup	ENSP00000393343.2:p.Thr968_His969insIleThr
ENST00000448424.6:c.2860_2865dup	ENSP00000416738.2:p.Thr955_His956insIleThr
ENST00000466629.1:n.314_319dup
ENST00000634296.1:c.1022-1704_1022-1699dup
ENST00000634308.1:c.*195_*200dup	ENSP00000489234.1:n.*195_*200dup
ENST00000634620.1:n.3838_3843dup
ENST00000634810.1:n.2439_2444dup
ENST00000634844.1:c.2950_2955dup	ENSP00000489398.1:p.Thr985_His986insIleThr
ENST00000635406.1:n.440_445dup
NM_000053.3:c.3094_3099dup	NP_000044.2:p.Thr1033_His1034insIleThr
NM_001005918.2:c.2473_2478dup	NP_001005918.1:p.Thr826_His827insIleThr
NM_001243182.1:c.2761_2766dup	NP_001230111.1:p.Thr922_His923insIleThr
XM_005266423.2:c.2998_3003dup	XP_005266480.1:p.Thr1001_His1002insIleThr
XM_005266424.3:c.2998_3003dup	XP_005266481.1:p.Thr1001_His1002insIleThr
XM_005266427.2:c.2860_2865dup	XP_005266484.1:p.Thr955_His956insIleThr
XM_005266428.1:c.2842_2847dup	XP_005266485.1:p.Thr949_His950insIleThr
XM_005266430.3:c.3094_3099dup	XP_005266487.1:p.Thr1033_His1034insIleThr
XM_005266431.2:c.3058_3063dup	XP_005266488.1:p.Thr1021_His1022insIleThr
XM_005266432.2:c.2608_2613dup	XP_005266489.1:p.Thr871_His872insIleThr
XM_006719837.2:c.2998_3003dup	XP_006719900.1:p.Thr1001_His1002insIleThr
XM_006719838.1:c.910_915dup	XP_006719901.1:p.Thr305_His306insIleThr
XM_006719839.1:c.877-1704_877-1699dup	XP_006719902.1:n.877-1704_877-1699dup
XM_011535117.1:c.2998_3003dup	XP_011533419.1:p.Thr1001_His1002insIleThr
XM_011535118.1:c.2959_2964dup	XP_011533420.1:p.Thr988_His989insIleThr
XM_011535119.1:c.3061-1704_3061-1699dup	XP_011533421.1:n.3061-1704_3061-1699dup
XM_011535120.1:c.2680_2685dup	XP_011533422.1:p.Thr895_His896insIleThr
XM_011535121.1:c.2731-1704_2731-1699dup	XP_011533423.1:n.2731-1704_2731-1699dup
XM_011535122.1:c.1762_1767dup	XP_011533424.1:p.Thr589_His590insIleThr
XR_941601.1:n.3313_3318dup
XR_941602.1:n.3313_3318dup
XR_941603.1:n.3313_3318dup
XR_941604.1:n.3313_3318dup
NM_001330578.1:c.2860_2865dup	NP_001317507.1:p.Thr955_His956insIleThr
NM_001330579.1:c.2842_2847dup	NP_001317508.1:p.Thr949_His950insIleThr
XM_005266424.4:c.2998_3003dup	XP_005266481.1:p.Thr1001_His1002insIleThr
XM_005266430.4:c.3094_3099dup	XP_005266487.1:p.Thr1033_His1034insIleThr
XM_005266431.4:c.3058_3063dup	XP_005266488.1:p.Thr1021_His1022insIleThr
XM_006719837.3:c.2998_3003dup	XP_006719900.1:p.Thr1001_His1002insIleThr
XM_011535117.3:c.2998_3003dup	XP_011533419.1:p.Thr1001_His1002insIleThr
XM_017020627.1:c.2998_3003dup	XP_016876116.1:p.Thr1001_His1002insIleThr
NM_000053.4:c.3094_3099dup MANE Select	NP_000044.2:p.Thr1033_His1034insIleThr
NM_001005918.3:c.2473_2478dup	NP_001005918.1:p.Thr826_His827insIleThr
NM_001330579.2:c.2842_2847dup	NP_001317508.1:p.Thr949_His950insIleThr
NM_001243182.2:c.2761_2766dup	NP_001230111.1:p.Thr922_His923insIleThr
NM_001330578.2:c.2860_2865dup	NP_001317507.1:p.Thr955_His956insIleThr