Canonical Allele Identifier: CA10579938
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231807
dbSNP Id: rs876659378

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621448del , CM000678.2:g.23621448del GRCh38
NC_000016.9:g.23632769del , CM000678.1:g.23632769del GRCh37
NC_000016.8:g.23540270del NCBI36
NG_007406.1:g.24910del , LRG_308:g.24910del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3033del ENSP00000460666.3:p.Glu1012ArgfsTer5
ENST00000565038.2:c.*508del ENSP00000459882.2:n.*508del
ENST00000566069.6:c.3027del ENSP00000459237.2:p.Glu1010ArgfsTer5
ENST00000697377.2:c.2871del ENSP00000513286.2:p.Glu958ArgfsTer5
ENST00000697379.2:c.3033del ENSP00000513287.2:p.Glu1012ArgfsTer5
ENST00000561514.2:c.2142del ENSP00000460666.2:p.Glu715ArgfsTer5
ENST00000697374.1:c.2142del ENSP00000513284.1:p.Glu715ArgfsTer5
ENST00000697375.1:n.4374del
ENST00000697376.1:c.2142del ENSP00000513285.1:p.Glu715ArgfsTer5
ENST00000697377.1:c.1980del ENSP00000513286.1:p.Glu661ArgfsTer5
ENST00000697378.1:n.3547del
ENST00000697379.1:c.2142del ENSP00000513287.1:p.Glu715ArgfsTer5
ENST00000697380.1:n.2319del
ENST00000697381.1:n.1722del
ENST00000697382.1:c.2142del ENSP00000513288.1:p.Glu715ArgfsTer5
ENST00000697383.1:c.561del ENSP00000513289.1:p.Glu188ArgfsTer5
ENST00000261584.9:c.3027del MANE Select ENSP00000261584.4:p.Glu1010ArgfsTer5
ENST00000261584.8:c.3027del ENSP00000261584.4:p.Glu1010ArgfsTer5
ENST00000568219.5:c.2142del ENSP00000454703.2:p.Glu715ArgfsTer5
NM_024675.3:c.3027del , LRG_308t1:c.3027del NP_078951.2:p.Glu1010ArgfsTer5
XM_011545946.1:c.3033del XP_011544248.1:p.Glu1012ArgfsTer5
XM_011545947.1:c.3033del XP_011544249.1:p.Glu1012ArgfsTer5
XM_011545948.1:c.2142del XP_011544250.1:p.Glu715ArgfsTer5
XR_950851.1:n.3823del
XM_011545946.2:c.3033del XP_011544248.1:p.Glu1012ArgfsTer5
XM_011545947.2:c.3033del XP_011544249.1:p.Glu1012ArgfsTer5
XM_011545948.2:c.2142del XP_011544250.1:p.Glu715ArgfsTer5
XM_017023671.1:c.3033del XP_016879160.1:p.Glu1012ArgfsTer5
XM_017023672.2:c.3027del XP_016879161.1:p.Glu1010ArgfsTer5
XM_017023673.2:c.3027del XP_016879162.1:p.Glu1010ArgfsTer5
NM_024675.4:c.3027del MANE Select NP_078951.2:p.Glu1010ArgfsTer5