Canonical Allele Identifier: CA658658398
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623128del , CM000678.2:g.23623128del GRCh38
NC_000016.9:g.23634449del , CM000678.1:g.23634449del GRCh37
NC_000016.8:g.23541950del NCBI36
NG_007406.1:g.23230del , LRG_308:g.23230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2843del ENSP00000460666.3:p.Ala948AspfsTer16
ENST00000565038.2:c.*318del ENSP00000459882.2:n.*318del
ENST00000566069.6:c.2837del ENSP00000459237.2:p.Ala946AspfsTer16
ENST00000697377.2:c.2681del ENSP00000513286.2:p.Ala894AspfsTer16
ENST00000697379.2:c.2843del ENSP00000513287.2:p.Ala948AspfsTer16
ENST00000561514.2:c.1952del ENSP00000460666.2:p.Ala651AspfsTer16
ENST00000697374.1:c.1952del ENSP00000513284.1:p.Ala651AspfsTer16
ENST00000697375.1:n.4184del
ENST00000697376.1:c.1952del ENSP00000513285.1:p.Ala651AspfsTer16
ENST00000697377.1:c.1790del ENSP00000513286.1:p.Ala597AspfsTer16
ENST00000697378.1:n.3357del
ENST00000697379.1:c.1952del ENSP00000513287.1:p.Ala651AspfsTer16
ENST00000697380.1:n.2129del
ENST00000697381.1:n.1532del
ENST00000697382.1:c.1952del ENSP00000513288.1:p.Ala651AspfsTer16
ENST00000697383.1:c.371del ENSP00000513289.1:p.Ala124AspfsTer16
ENST00000261584.9:c.2837del MANE Select ENSP00000261584.4:p.Ala946AspfsTer16
ENST00000261584.8:c.2837del ENSP00000261584.4:p.Ala946AspfsTer16
ENST00000568219.5:c.1952del ENSP00000454703.2:p.Ala651AspfsTer16
NM_024675.3:c.2837del , LRG_308t1:c.2837del NP_078951.2:p.Ala946AspfsTer16
XM_011545946.1:c.2843del XP_011544248.1:p.Ala948AspfsTer16
XM_011545947.1:c.2843del XP_011544249.1:p.Ala948AspfsTer16
XM_011545948.1:c.1952del XP_011544250.1:p.Ala651AspfsTer16
XR_950851.1:n.3633del
XM_011545946.2:c.2843del XP_011544248.1:p.Ala948AspfsTer16
XM_011545947.2:c.2843del XP_011544249.1:p.Ala948AspfsTer16
XM_011545948.2:c.1952del XP_011544250.1:p.Ala651AspfsTer16
XM_017023671.1:c.2843del XP_016879160.1:p.Ala948AspfsTer16
XM_017023672.2:c.2837del XP_016879161.1:p.Ala946AspfsTer16
XM_017023673.2:c.2837del XP_016879162.1:p.Ala946AspfsTer16
NM_024675.4:c.2837del MANE Select NP_078951.2:p.Ala946AspfsTer16