Canonical Allele Identifier: CA165782
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141560
dbSNP Id: rs587781840

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623002del , CM000678.2:g.23623002del GRCh38
NC_000016.9:g.23634323del , CM000678.1:g.23634323del GRCh37
NC_000016.8:g.23541824del NCBI36
NG_007406.1:g.23357del , LRG_308:g.23357del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2970del ENSP00000460666.3:p.Val991Ter
ENST00000565038.2:c.*445del ENSP00000459882.2:n.*445del
ENST00000566069.6:c.2964del ENSP00000459237.2:p.Val989Ter
ENST00000697377.2:c.2808del ENSP00000513286.2:p.Val937Ter
ENST00000697379.2:c.2970del ENSP00000513287.2:p.Val991Ter
ENST00000561514.2:c.2079del ENSP00000460666.2:p.Val694Ter
ENST00000697374.1:c.2079del ENSP00000513284.1:p.Val694Ter
ENST00000697375.1:n.4311del
ENST00000697376.1:c.2079del ENSP00000513285.1:p.Val694Ter
ENST00000697377.1:c.1917del ENSP00000513286.1:p.Val640Ter
ENST00000697378.1:n.3484del
ENST00000697379.1:c.2079del ENSP00000513287.1:p.Val694Ter
ENST00000697380.1:n.2256del
ENST00000697381.1:n.1659del
ENST00000697382.1:c.2079del ENSP00000513288.1:p.Val694Ter
ENST00000697383.1:c.498del ENSP00000513289.1:p.Val167Ter
ENST00000261584.9:c.2964del MANE Select ENSP00000261584.4:p.Val989Ter
ENST00000261584.8:c.2964del ENSP00000261584.4:p.Val989Ter
ENST00000568219.5:c.2079del ENSP00000454703.2:p.Val694Ter
NM_024675.3:c.2964del , LRG_308t1:c.2964del NP_078951.2:p.Val989Ter
XM_011545946.1:c.2970del XP_011544248.1:p.Val991Ter
XM_011545947.1:c.2970del XP_011544249.1:p.Val991Ter
XM_011545948.1:c.2079del XP_011544250.1:p.Val694Ter
XR_950851.1:n.3760del
XM_011545946.2:c.2970del XP_011544248.1:p.Val991Ter
XM_011545947.2:c.2970del XP_011544249.1:p.Val991Ter
XM_011545948.2:c.2079del XP_011544250.1:p.Val694Ter
XM_017023671.1:c.2970del XP_016879160.1:p.Val991Ter
XM_017023672.2:c.2964del XP_016879161.1:p.Val989Ter
XM_017023673.2:c.2964del XP_016879162.1:p.Val989Ter
NM_024675.4:c.2964del MANE Select NP_078951.2:p.Val989Ter