Canonical Allele Identifier: CA2091557726

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51965021_51965058delinsTCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC , CM000675.2:g.51965021_51965058delinsTCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC	GRCh38
NC_000013.10:g.52539157_52539194delinsTCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC , CM000675.1:g.52539157_52539194delinsTCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC	GRCh37
NC_000013.9:g.51437158_51437195delinsTCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC	NCBI36
NG_008806.1:g.51437_51474delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000673864.2:c.*452-25_*464delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000674147.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000242839.10:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000344297.9:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000400366.6:c.1375-25_1387delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000448424.7:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000483772.2:n.464-25_476delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000673772.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000673864.1:c.902-25_914delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000674147.1:c.1264-25_1276delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000242839.8:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000344297.8:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000400366.5:c.1375-25_1387delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000400370.8:c.1285+8877_1285+8914delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA	ENSP00000383221.3:n.1285+8877_1285+8914delinsGGATTCTTGCCATCCT...
ENST00000418097.7:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000448424.6:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000482841.6:n.1664+5434_1664+5471delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000483772.1:n.464-25_476delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000634308.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000634620.1:n.200-25_212delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000634844.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
ENST00000635406.1:n.212-18580_212-18543delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_000053.3:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001005918.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001243182.1:c.1375-25_1387delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266423.2:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266424.3:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266427.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266428.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266430.3:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266431.2:c.1672-25_1684delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266432.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_006719837.2:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_011535117.1:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_011535118.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_011535119.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_011535120.1:c.1707+3386_1707+3423delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA	XP_011533422.1:n.1707+3386_1707+3423delinsGGATTCTTGCCATCCTGTG...
XM_011535121.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_011535122.1:c.376-25_388delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XR_941601.1:n.1927-25_1939delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XR_941602.1:n.1927-25_1939delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XR_941603.1:n.1927-25_1939delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XR_941604.1:n.1927-25_1939delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001330578.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001330579.1:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266424.4:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266430.4:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_005266431.4:c.1672-25_1684delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_006719837.3:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_011535117.3:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
XM_017020627.1:c.1612-25_1624delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_000053.4:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001005918.3:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001330579.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001243182.2:c.1375-25_1387delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA
NM_001330578.2:c.1708-25_1720delinsGGATTCTTGCCATCCTGTGTTGCAGATCACAGGGATGA