Canonical Allele Identifier: CA294550
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143962
dbSNP Id: rs587776412

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635116del , CM000678.2:g.23635116del GRCh38
NC_000016.9:g.23646437del , CM000678.1:g.23646437del GRCh37
NC_000016.8:g.23553938del NCBI36
NG_007406.1:g.11243del , LRG_308:g.11243del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1437del ENSP00000460666.3:p.Ser480LeufsTer7
ENST00000565038.2:c.211+2735del ENSP00000459882.2:n.211+2735del
ENST00000566069.6:c.1431del ENSP00000459237.2:p.Ser478LeufsTer7
ENST00000697377.2:c.1437del ENSP00000513286.2:p.Ser480LeufsTer7
ENST00000697379.2:c.1437del ENSP00000513287.2:p.Ser480LeufsTer7
ENST00000561514.2:c.546del ENSP00000460666.2:p.Ser183LeufsTer7
ENST00000697374.1:c.546del ENSP00000513284.1:p.Ser183LeufsTer7
ENST00000697375.1:n.2778del
ENST00000697376.1:c.546del ENSP00000513285.1:p.Ser183LeufsTer7
ENST00000697377.1:c.546del ENSP00000513286.1:p.Ser183LeufsTer7
ENST00000697378.1:n.1951del
ENST00000697379.1:c.546del ENSP00000513287.1:p.Ser183LeufsTer7
ENST00000697382.1:c.546del ENSP00000513288.1:p.Ser183LeufsTer7
ENST00000697383.1:c.49-5840del ENSP00000513289.1:n.49-5840del
ENST00000697384.1:n.1585del
ENST00000261584.9:c.1431del MANE Select ENSP00000261584.4:p.Ser478LeufsTer7
ENST00000261584.8:c.1431del ENSP00000261584.4:p.Ser478LeufsTer7
ENST00000565038.1:c.86+2735del
ENST00000568219.5:c.546del ENSP00000454703.2:p.Ser183LeufsTer7
NM_024675.3:c.1431del , LRG_308t1:c.1431del NP_078951.2:p.Ser478LeufsTer7
XM_011545946.1:c.1437del XP_011544248.1:p.Ser480LeufsTer7
XM_011545947.1:c.1437del XP_011544249.1:p.Ser480LeufsTer7
XM_011545948.1:c.546del XP_011544250.1:p.Ser183LeufsTer7
XR_950851.1:n.2227del
XM_011545946.2:c.1437del XP_011544248.1:p.Ser480LeufsTer7
XM_011545947.2:c.1437del XP_011544249.1:p.Ser480LeufsTer7
XM_011545948.2:c.546del XP_011544250.1:p.Ser183LeufsTer7
XM_017023671.1:c.1437del XP_016879160.1:p.Ser480LeufsTer7
XM_017023672.2:c.1431del XP_016879161.1:p.Ser478LeufsTer7
XM_017023673.2:c.1431del XP_016879162.1:p.Ser478LeufsTer7
NM_024675.4:c.1431del MANE Select NP_078951.2:p.Ser478LeufsTer7