Canonical Allele Identifier: CA16614818
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 410180
dbSNP Id: rs1060502781

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623029del , CM000678.2:g.23623029del GRCh38
NC_000016.9:g.23634350del , CM000678.1:g.23634350del GRCh37
NC_000016.8:g.23541851del NCBI36
NG_007406.1:g.23329del , LRG_308:g.23329del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2942del ENSP00000460666.3:p.Ser981IlefsTer11
ENST00000565038.2:c.*417del ENSP00000459882.2:n.*417del
ENST00000566069.6:c.2936del ENSP00000459237.2:p.Ser979IlefsTer11
ENST00000697377.2:c.2780del ENSP00000513286.2:p.Ser927IlefsTer11
ENST00000697379.2:c.2942del ENSP00000513287.2:p.Ser981IlefsTer11
ENST00000561514.2:c.2051del ENSP00000460666.2:p.Ser684IlefsTer11
ENST00000697374.1:c.2051del ENSP00000513284.1:p.Ser684IlefsTer11
ENST00000697375.1:n.4283del
ENST00000697376.1:c.2051del ENSP00000513285.1:p.Ser684IlefsTer11
ENST00000697377.1:c.1889del ENSP00000513286.1:p.Ser630IlefsTer11
ENST00000697378.1:n.3456del
ENST00000697379.1:c.2051del ENSP00000513287.1:p.Ser684IlefsTer11
ENST00000697380.1:n.2228del
ENST00000697381.1:n.1631del
ENST00000697382.1:c.2051del ENSP00000513288.1:p.Ser684IlefsTer11
ENST00000697383.1:c.470del ENSP00000513289.1:p.Ser157IlefsTer11
ENST00000261584.9:c.2936del MANE Select ENSP00000261584.4:p.Ser979IlefsTer11
ENST00000261584.8:c.2936del ENSP00000261584.4:p.Ser979IlefsTer11
ENST00000568219.5:c.2051del ENSP00000454703.2:p.Ser684IlefsTer11
NM_024675.3:c.2936del , LRG_308t1:c.2936del NP_078951.2:p.Ser979IlefsTer11
XM_011545946.1:c.2942del XP_011544248.1:p.Ser981IlefsTer11
XM_011545947.1:c.2942del XP_011544249.1:p.Ser981IlefsTer11
XM_011545948.1:c.2051del XP_011544250.1:p.Ser684IlefsTer11
XR_950851.1:n.3732del
XM_011545946.2:c.2942del XP_011544248.1:p.Ser981IlefsTer11
XM_011545947.2:c.2942del XP_011544249.1:p.Ser981IlefsTer11
XM_011545948.2:c.2051del XP_011544250.1:p.Ser684IlefsTer11
XM_017023671.1:c.2942del XP_016879160.1:p.Ser981IlefsTer11
XM_017023672.2:c.2936del XP_016879161.1:p.Ser979IlefsTer11
XM_017023673.2:c.2936del XP_016879162.1:p.Ser979IlefsTer11
NM_024675.4:c.2936del MANE Select NP_078951.2:p.Ser979IlefsTer11