Canonical Allele Identifier: CA165253
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141372
dbSNP Id: rs587781697

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635893del , CM000678.2:g.23635893del GRCh38
NC_000016.9:g.23647214del , CM000678.1:g.23647214del GRCh37
NC_000016.8:g.23554715del NCBI36
NG_007406.1:g.10466del , LRG_308:g.10466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.660del ENSP00000460666.3:p.Asp221ThrfsTer4
ENST00000565038.2:c.211+1958del ENSP00000459882.2:n.211+1958del
ENST00000566069.6:c.654del ENSP00000459237.2:p.Asp219ThrfsTer4
ENST00000697377.2:c.660del ENSP00000513286.2:p.Asp221ThrfsTer4
ENST00000697379.2:c.660del ENSP00000513287.2:p.Asp221ThrfsTer4
ENST00000561514.2:c.-232del ENSP00000460666.2:n.-232del
ENST00000697374.1:c.-232del ENSP00000513284.1:n.-232del
ENST00000697375.1:n.2001del
ENST00000697376.1:c.-232del ENSP00000513285.1:n.-232del
ENST00000697377.1:c.-232del ENSP00000513286.1:n.-232del
ENST00000697378.1:n.1174del
ENST00000697379.1:c.-232del ENSP00000513287.1:n.-232del
ENST00000697382.1:c.-232del ENSP00000513288.1:n.-232del
ENST00000697383.1:c.48+5218del ENSP00000513289.1:n.48+5218del
ENST00000697384.1:n.808del
ENST00000261584.9:c.654del MANE Select ENSP00000261584.4:p.Asp219ThrfsTer4
ENST00000261584.8:c.654del ENSP00000261584.4:p.Asp219ThrfsTer4
ENST00000565038.1:c.86+1958del
ENST00000568219.5:c.-232del ENSP00000454703.2:n.-232del
NM_024675.3:c.654del , LRG_308t1:c.654del NP_078951.2:p.Asp219ThrfsTer4
XM_011545946.1:c.660del XP_011544248.1:p.Asp221ThrfsTer4
XM_011545947.1:c.660del XP_011544249.1:p.Asp221ThrfsTer4
XM_011545948.1:c.-232del XP_011544250.1:n.-232del
XR_950851.1:n.1450del
XM_011545946.2:c.660del XP_011544248.1:p.Asp221ThrfsTer4
XM_011545947.2:c.660del XP_011544249.1:p.Asp221ThrfsTer4
XM_011545948.2:c.-232del XP_011544250.1:n.-232del
XM_017023671.1:c.660del XP_016879160.1:p.Asp221ThrfsTer4
XM_017023672.2:c.654del XP_016879161.1:p.Asp219ThrfsTer4
XM_017023673.2:c.654del XP_016879162.1:p.Asp219ThrfsTer4
NM_024675.4:c.654del MANE Select NP_078951.2:p.Asp219ThrfsTer4