Canonical Allele Identifier: CA2517784573

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960233_51960235del , CM000675.2:g.51960233_51960235del	GRCh38
NC_000013.10:g.52534369_52534371del , CM000675.1:g.52534369_52534371del	GRCh37
NC_000013.9:g.51432370_51432372del	NCBI36
NG_008806.1:g.56263_56265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1946+1605_1946+1607del	ENSP00000489512.2:n.1946+1605_1946+1607de...
ENST00000673864.2:c.*781_*783del	ENSP00000501045.2:n.*781_*783del
ENST00000674147.2:c.1870-2625_1870-2623del	ENSP00000500964.2:n.1870-2625_1870-2623de...
ENST00000242839.10:c.2037_2039del MANE Select	ENSP00000242839.5:p.His679del
ENST00000344297.9:c.1870-2625_1870-2623del	ENSP00000342559.5:n.1870-2625_1870-2623de...
ENST00000400366.6:c.1704_1706del	ENSP00000383217.3:p.His568del
ENST00000448424.7:c.1870-1688_1870-1686del	ENSP00000416738.3:n.1870-1688_1870-1686de...
ENST00000673772.1:c.2037_2039del	ENSP00000501168.1:p.His679del
ENST00000674147.1:c.1426-2625_1426-2623del	ENSP00000500964.1:n.1426-2625_1426-2623de...
ENST00000242839.8:c.2037_2039del	ENSP00000242839.4:p.His679del
ENST00000344297.8:c.1870-2625_1870-2623del	ENSP00000342559.5:n.1870-2625_1870-2623de...
ENST00000400366.5:c.1704_1706del	ENSP00000383217.3:p.His568del
ENST00000400370.8:c.1286-10071_1286-10069del	ENSP00000383221.3:n.1286-10071_1286-10069...
ENST00000418097.7:c.2037_2039del	ENSP00000393343.2:p.His679del
ENST00000448424.6:c.2037_2039del	ENSP00000416738.2:p.His679del
ENST00000482841.6:n.1665-1688_1665-1686del
ENST00000634296.1:c.82+1605_82+1607del
ENST00000634308.1:c.2037_2039del	ENSP00000489234.1:p.His679del
ENST00000634620.1:n.529_531del
ENST00000634844.1:c.2037_2039del	ENSP00000489398.1:p.His679del
ENST00000635406.1:n.212-13754_212-13752del
NM_000053.3:c.2037_2039del	NP_000044.2:p.His679del
NM_001005918.2:c.1870-2625_1870-2623del	NP_001005918.1:n.1870-2625_1870-2623del
NM_001243182.1:c.1704_1706del	NP_001230111.1:p.His568del
XM_005266423.2:c.1941_1943del	XP_005266480.1:p.His647del
XM_005266424.3:c.1941_1943del	XP_005266481.1:p.His647del
XM_005266427.2:c.2037_2039del	XP_005266484.1:p.His679del
XM_005266428.1:c.1870-1688_1870-1686del	XP_005266485.1:n.1870-1688_1870-1686del
XM_005266430.3:c.2037_2039del	XP_005266487.1:p.His679del
XM_005266431.2:c.2001_2003del	XP_005266488.1:p.His667del
XM_005266432.2:c.1870-2625_1870-2623del	XP_005266489.1:n.1870-2625_1870-2623del
XM_006719837.2:c.1941_1943del	XP_006719900.1:p.His647del
XM_006719838.1:c.-64+1605_-64+1607del	XP_006719901.1:n.-64+1605_-64+1607del
XM_006719839.1:c.-64+1605_-64+1607del	XP_006719902.1:n.-64+1605_-64+1607del
XM_011535117.1:c.1941_1943del	XP_011533419.1:p.His647del
XM_011535118.1:c.2037_2039del	XP_011533420.1:p.His679del
XM_011535119.1:c.2037_2039del	XP_011533421.1:p.His679del
XM_011535120.1:c.1708-1688_1708-1686del	XP_011533422.1:n.1708-1688_1708-1686del
XM_011535121.1:c.2037_2039del	XP_011533423.1:p.His679del
XM_011535122.1:c.705_707del	XP_011533424.1:p.His235del
XR_941601.1:n.2256_2258del
XR_941602.1:n.2256_2258del
XR_941603.1:n.2256_2258del
XR_941604.1:n.2256_2258del
NM_001330578.1:c.2037_2039del	NP_001317507.1:p.His679del
NM_001330579.1:c.1870-1688_1870-1686del	NP_001317508.1:n.1870-1688_1870-1686del
XM_005266424.4:c.1941_1943del	XP_005266481.1:p.His647del
XM_005266430.4:c.2037_2039del	XP_005266487.1:p.His679del
XM_005266431.4:c.2001_2003del	XP_005266488.1:p.His667del
XM_006719837.3:c.1941_1943del	XP_006719900.1:p.His647del
XM_011535117.3:c.1941_1943del	XP_011533419.1:p.His647del
XM_017020627.1:c.1941_1943del	XP_016876116.1:p.His647del
NM_000053.4:c.2037_2039del MANE Select	NP_000044.2:p.His679del
NM_001005918.3:c.1870-2625_1870-2623del	NP_001005918.1:n.1870-2625_1870-2623del
NM_001330579.2:c.1870-1688_1870-1686del	NP_001317508.1:n.1870-1688_1870-1686del
NM_001243182.2:c.1704_1706del	NP_001230111.1:p.His568del
NM_001330578.2:c.2037_2039del	NP_001317507.1:p.His679del