Canonical Allele Identifier: CA9051308
Community Standard Title: NM_138813.4(ATP8B3):c.2323_2327del (p.Phe775LeufsTer17)
Gene: ATP8B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1790810_1790814del , CM000681.2:g.1790810_1790814del GRCh38
NC_000019.9:g.1790809_1790813del , CM000681.1:g.1790809_1790813del GRCh37
NC_000019.8:g.1741809_1741813del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_138813.4:c.2323_2327del MANE Select NP_620168.1:p.Phe775LeufsTer17
ENST00000310127.10:c.2323_2327del MANE Select ENSP00000311336.6:p.Phe775LeufsTer17
NM_001178002.2:c.2212_2216del NP_001171473.1:p.Phe738LeufsTer17
NM_001178002.3:c.2212_2216del NP_001171473.1:p.Phe738LeufsTer17
NM_138813.3:c.2323_2327del NP_620168.1:p.Phe775LeufsTer17
NR_047593.2:n.2819_2823del
NR_047593.3:n.2819_2823del
ENST00000525591.5:c.2212_2216del ENSP00000437115.1:p.Phe738LeufsTer17
ENST00000526847.1:c.6_10del
ENST00000531925.5:c.*2319_*2323del ENSP00000444334.1:n.*2319_*2323del
XM_006722654.2:c.2353_2357del XP_006722717.1:p.Phe785LeufsTer17
XM_006722654.3:c.2353_2357del XP_006722717.1:p.Phe785LeufsTer17
XM_006722655.2:c.2353_2357del XP_006722718.1:p.Phe785LeufsTer17
XM_006722655.3:c.2353_2357del XP_006722718.1:p.Phe785LeufsTer17
XM_006722656.2:c.2095_2099del XP_006722719.1:p.Phe699LeufsTer17
XM_006722656.3:c.2095_2099del XP_006722719.1:p.Phe699LeufsTer17
XM_006722657.2:c.2353_2357del XP_006722720.1:p.Phe785LeufsTer17
XM_011527707.1:c.2353_2357del XP_011526009.1:p.Phe785LeufsTer17
XM_011527707.2:c.2353_2357del XP_011526009.1:p.Phe785LeufsTer17
XM_011527708.1:c.2233_2237del XP_011526010.1:p.Phe745LeufsTer17
XM_011527708.2:c.2233_2237del XP_011526010.1:p.Phe745LeufsTer17
XM_011527709.1:c.2353_2357del XP_011526011.1:p.Phe785LeufsTer17
XM_011527709.2:c.2353_2357del XP_011526011.1:p.Phe785LeufsTer17
XM_011527710.1:c.1597_1601del XP_011526012.1:p.Phe533LeufsTer17
XM_011527710.3:c.1597_1601del XP_011526012.1:p.Phe533LeufsTer17
XM_011527711.1:c.2353_2357del XP_011526013.1:p.Phe785LeufsTer17
XM_011527711.2:c.2353_2357del XP_011526013.1:p.Phe785LeufsTer17
XM_011527712.1:c.493_497del XP_011526014.1:p.Phe165LeufsTer17
XM_011527712.2:c.493_497del XP_011526014.1:p.Phe165LeufsTer17