Canonical Allele Identifier: CA2573149692

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1410261
• ClinVar RCV Id: RCV001916362
• dbSNP Id: rs2139208029

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950096_51950117del , CM000675.2:g.51950096_51950117del	GRCh38
NC_000013.10:g.52524232_52524253del , CM000675.1:g.52524232_52524253del	GRCh37
NC_000013.9:g.51422233_51422254del	NCBI36
NG_008806.1:g.66380_66401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*455_*476del	ENSP00000489512.2:n.*455_*476del
ENST00000673864.2:c.*1366_*1387del	ENSP00000501045.2:n.*1366_*1387del
ENST00000674147.2:c.2136_2157del	ENSP00000500964.2:p.Gly713LeufsTer19
ENST00000242839.10:c.2622_2643del MANE Select	ENSP00000242839.5:p.Gly875LeufsTer19
ENST00000344297.9:c.2136_2157del	ENSP00000342559.5:p.Gly713LeufsTer19
ENST00000400366.6:c.2289_2310del	ENSP00000383217.3:p.Gly764LeufsTer19
ENST00000448424.7:c.2370_2391del	ENSP00000416738.3:p.Gly791LeufsTer19
ENST00000673772.1:c.2388_2409del	ENSP00000501168.1:p.Gly797LeufsTer19
ENST00000674147.1:c.1692_1713del	ENSP00000500964.1:p.Gly565LeufsTer19
ENST00000242839.8:c.2622_2643del	ENSP00000242839.4:p.Gly875LeufsTer19
ENST00000344297.8:c.2136_2157del	ENSP00000342559.5:p.Gly713LeufsTer19
ENST00000400366.5:c.2289_2310del	ENSP00000383217.3:p.Gly764LeufsTer19
ENST00000400370.8:c.1332_1353del	ENSP00000383221.3:p.Gly445LeufsTer19
ENST00000418097.7:c.2622_2643del	ENSP00000393343.2:p.Gly875LeufsTer19
ENST00000448424.6:c.2388_2409del	ENSP00000416738.2:p.Gly797LeufsTer19
ENST00000634296.1:c.583_604del
ENST00000634308.1:c.2388_2409del	ENSP00000489234.1:p.Gly797LeufsTer19
ENST00000634620.1:n.3420_3441del
ENST00000634810.1:n.1967_1988del
ENST00000634844.1:c.2478_2499del	ENSP00000489398.1:p.Gly827LeufsTer19
ENST00000635406.1:n.212-3637_212-3616del
NM_000053.3:c.2622_2643del	NP_000044.2:p.Gly875LeufsTer19
NM_001005918.2:c.2136_2157del	NP_001005918.1:p.Gly713LeufsTer19
NM_001243182.1:c.2289_2310del	NP_001230111.1:p.Gly764LeufsTer19
XM_005266423.2:c.2526_2547del	XP_005266480.1:p.Gly843LeufsTer19
XM_005266424.3:c.2526_2547del	XP_005266481.1:p.Gly843LeufsTer19
XM_005266427.2:c.2388_2409del	XP_005266484.1:p.Gly797LeufsTer19
XM_005266428.1:c.2370_2391del	XP_005266485.1:p.Gly791LeufsTer19
XM_005266430.3:c.2622_2643del	XP_005266487.1:p.Gly875LeufsTer19
XM_005266431.2:c.2586_2607del	XP_005266488.1:p.Gly863LeufsTer19
XM_005266432.2:c.2136_2157del	XP_005266489.1:p.Gly713LeufsTer19
XM_006719837.2:c.2526_2547del	XP_006719900.1:p.Gly843LeufsTer19
XM_006719838.1:c.438_459del	XP_006719901.1:p.Gly147LeufsTer19
XM_006719839.1:c.438_459del	XP_006719902.1:p.Gly147LeufsTer19
XM_011535117.1:c.2526_2547del	XP_011533419.1:p.Gly843LeufsTer19
XM_011535118.1:c.2622_2643del	XP_011533420.1:p.Gly875LeufsTer19
XM_011535119.1:c.2622_2643del	XP_011533421.1:p.Gly875LeufsTer19
XM_011535120.1:c.2208_2229del	XP_011533422.1:p.Gly737LeufsTer19
XM_011535121.1:c.2622_2643del	XP_011533423.1:p.Gly875LeufsTer19
XM_011535122.1:c.1290_1311del	XP_011533424.1:p.Gly431LeufsTer19
XR_941601.1:n.2841_2862del
XR_941602.1:n.2841_2862del
XR_941603.1:n.2841_2862del
XR_941604.1:n.2841_2862del
NM_001330578.1:c.2388_2409del	NP_001317507.1:p.Gly797LeufsTer19
NM_001330579.1:c.2370_2391del	NP_001317508.1:p.Gly791LeufsTer19
XM_005266424.4:c.2526_2547del	XP_005266481.1:p.Gly843LeufsTer19
XM_005266430.4:c.2622_2643del	XP_005266487.1:p.Gly875LeufsTer19
XM_005266431.4:c.2586_2607del	XP_005266488.1:p.Gly863LeufsTer19
XM_006719837.3:c.2526_2547del	XP_006719900.1:p.Gly843LeufsTer19
XM_011535117.3:c.2526_2547del	XP_011533419.1:p.Gly843LeufsTer19
XM_017020627.1:c.2526_2547del	XP_016876116.1:p.Gly843LeufsTer19
NM_000053.4:c.2622_2643del MANE Select	NP_000044.2:p.Gly875LeufsTer19
NM_001005918.3:c.2136_2157del	NP_001005918.1:p.Gly713LeufsTer19
NM_001330579.2:c.2370_2391del	NP_001317508.1:p.Gly791LeufsTer19
NM_001243182.2:c.2289_2310del	NP_001230111.1:p.Gly764LeufsTer19
NM_001330578.2:c.2388_2409del	NP_001317507.1:p.Gly797LeufsTer19