Canonical Allele Identifier: CA151225
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635237del , CM000678.2:g.23635237del GRCh38
NC_000016.9:g.23646558del , CM000678.1:g.23646558del GRCh37
NC_000016.8:g.23554059del NCBI36
NG_007406.1:g.11126del , LRG_308:g.11126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1320del ENSP00000460666.3:p.Phe442LeufsTer12
ENST00000565038.2:c.211+2618del ENSP00000459882.2:n.211+2618del
ENST00000566069.6:c.1314del ENSP00000459237.2:p.Phe440LeufsTer12
ENST00000697377.2:c.1320del ENSP00000513286.2:p.Phe442LeufsTer12
ENST00000697379.2:c.1320del ENSP00000513287.2:p.Phe442LeufsTer12
ENST00000561514.2:c.429del ENSP00000460666.2:p.Phe145LeufsTer12
ENST00000697374.1:c.429del ENSP00000513284.1:p.Phe145LeufsTer12
ENST00000697375.1:n.2661del
ENST00000697376.1:c.429del ENSP00000513285.1:p.Phe145LeufsTer12
ENST00000697377.1:c.429del ENSP00000513286.1:p.Phe145LeufsTer12
ENST00000697378.1:n.1834del
ENST00000697379.1:c.429del ENSP00000513287.1:p.Phe145LeufsTer12
ENST00000697382.1:c.429del ENSP00000513288.1:p.Phe145LeufsTer12
ENST00000697383.1:c.48+5878del ENSP00000513289.1:n.48+5878del
ENST00000697384.1:n.1468del
ENST00000261584.9:c.1314del MANE Select ENSP00000261584.4:p.Phe440LeufsTer12
ENST00000261584.8:c.1314del ENSP00000261584.4:p.Phe440LeufsTer12
ENST00000565038.1:c.86+2618del
ENST00000568219.5:c.429del ENSP00000454703.2:p.Phe145LeufsTer12
NM_024675.3:c.1314del , LRG_308t1:c.1314del NP_078951.2:p.Phe440LeufsTer12
XM_011545946.1:c.1320del XP_011544248.1:p.Phe442LeufsTer12
XM_011545947.1:c.1320del XP_011544249.1:p.Phe442LeufsTer12
XM_011545948.1:c.429del XP_011544250.1:p.Phe145LeufsTer12
XR_950851.1:n.2110del
XM_011545946.2:c.1320del XP_011544248.1:p.Phe442LeufsTer12
XM_011545947.2:c.1320del XP_011544249.1:p.Phe442LeufsTer12
XM_011545948.2:c.429del XP_011544250.1:p.Phe145LeufsTer12
XM_017023671.1:c.1320del XP_016879160.1:p.Phe442LeufsTer12
XM_017023672.2:c.1314del XP_016879161.1:p.Phe440LeufsTer12
XM_017023673.2:c.1314del XP_016879162.1:p.Phe440LeufsTer12
NM_024675.4:c.1314del MANE Select NP_078951.2:p.Phe440LeufsTer12