Canonical Allele Identifier: CA3046659599
Community Standard Title: NM_024675.4(PALB2):c.133_139del (p.Lys45LeufsTer6)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637925_23637931del , CM000678.2:g.23637925_23637931del GRCh38
NC_000016.9:g.23649246_23649252del , CM000678.1:g.23649246_23649252del GRCh37
NC_000016.8:g.23556747_23556753del NCBI36
NG_007406.1:g.8430_8436del , LRG_308:g.8430_8436del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.133_139del MANE Select NP_078951.2:p.Lys45LeufsTer6
ENST00000261584.9:c.133_139del MANE Select ENSP00000261584.4:p.Lys45LeufsTer6
NM_024675.3:c.133_139del , LRG_308t1:c.133_139del NP_078951.2:p.Lys45LeufsTer6
ENST00000261584.8:c.133_139del ENSP00000261584.4:p.Lys45LeufsTer6
ENST00000561514.1:c.139_145del ENSP00000460666.1:p.Lys47LeufsTer6
ENST00000561514.2:c.-753_-747del ENSP00000460666.2:n.-753_-747del
ENST00000561514.3:c.139_145del ENSP00000460666.3:p.Lys47LeufsTer6
ENST00000565038.1:c.8_14del
ENST00000565038.2:c.133_139del ENSP00000459882.2:p.Lys45LeufsTer6
ENST00000566069.6:c.133_139del ENSP00000459237.2:p.Lys45LeufsTer6
ENST00000567003.1:n.411_417del
ENST00000568219.5:c.-753_-747del ENSP00000454703.2:n.-753_-747del
ENST00000697374.1:c.-753_-747del ENSP00000513284.1:n.-753_-747del
ENST00000697375.1:n.1480_1486del
ENST00000697376.1:c.-753_-747del ENSP00000513285.1:n.-753_-747del
ENST00000697377.1:c.-753_-747del ENSP00000513286.1:n.-753_-747del
ENST00000697377.2:c.139_145del ENSP00000513286.2:p.Lys47LeufsTer6
ENST00000697378.1:n.653_659del
ENST00000697379.1:c.-753_-747del ENSP00000513287.1:n.-753_-747del
ENST00000697379.2:c.139_145del ENSP00000513287.2:p.Lys47LeufsTer6
ENST00000697382.1:c.-753_-747del ENSP00000513288.1:n.-753_-747del
ENST00000697383.1:c.48+3182_48+3188del ENSP00000513289.1:n.48+3182_48+3188del
ENST00000697384.1:n.287_293del
XM_011545946.1:c.139_145del XP_011544248.1:p.Lys47LeufsTer6
XM_011545946.2:c.139_145del XP_011544248.1:p.Lys47LeufsTer6
XM_011545947.1:c.139_145del XP_011544249.1:p.Lys47LeufsTer6
XM_011545947.2:c.139_145del XP_011544249.1:p.Lys47LeufsTer6
XM_011545948.1:c.-753_-747del XP_011544250.1:n.-753_-747del
XM_011545948.2:c.-753_-747del XP_011544250.1:n.-753_-747del
XM_017023671.1:c.139_145del XP_016879160.1:p.Lys47LeufsTer6
XM_017023672.2:c.133_139del XP_016879161.1:p.Lys45LeufsTer6
XM_017023673.2:c.133_139del XP_016879162.1:p.Lys45LeufsTer6
XR_950851.1:n.929_935del