Canonical Allele Identifier: CA2499223452
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1068983
ClinVar RCV Id: RCV001380688
dbSNP Id: rs2142443741

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636122del , CM000678.2:g.23636122del GRCh38
NC_000016.9:g.23647443del , CM000678.1:g.23647443del GRCh37
NC_000016.8:g.23554944del NCBI36
NG_007406.1:g.10237del , LRG_308:g.10237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.431del ENSP00000460666.3:p.Lys144SerfsTer?
ENST00000565038.2:c.211+1729del ENSP00000459882.2:n.211+1729del
ENST00000566069.6:c.425del ENSP00000459237.2:p.Lys142SerfsTer?
ENST00000697377.2:c.431del ENSP00000513286.2:p.Lys144SerfsTer?
ENST00000697379.2:c.431del ENSP00000513287.2:p.Lys144SerfsTer?
ENST00000561514.2:c.-461del ENSP00000460666.2:n.-461del
ENST00000697374.1:c.-461del ENSP00000513284.1:n.-461del
ENST00000697375.1:n.1772del
ENST00000697376.1:c.-461del ENSP00000513285.1:n.-461del
ENST00000697377.1:c.-461del ENSP00000513286.1:n.-461del
ENST00000697378.1:n.945del
ENST00000697379.1:c.-461del ENSP00000513287.1:n.-461del
ENST00000697382.1:c.-461del ENSP00000513288.1:n.-461del
ENST00000697383.1:c.48+4989del ENSP00000513289.1:n.48+4989del
ENST00000697384.1:n.579del
ENST00000261584.9:c.425del MANE Select ENSP00000261584.4:p.Lys142SerfsTer?
ENST00000261584.8:c.425del ENSP00000261584.4:p.Lys142SerfsTer?
ENST00000565038.1:c.86+1729del
ENST00000567003.1:n.703del
ENST00000568219.5:c.-461del ENSP00000454703.2:n.-461del
NM_024675.3:c.425del , LRG_308t1:c.425del NP_078951.2:p.Lys142SerfsTer?
XM_011545946.1:c.431del XP_011544248.1:p.Lys144SerfsTer?
XM_011545947.1:c.431del XP_011544249.1:p.Lys144SerfsTer?
XM_011545948.1:c.-461del XP_011544250.1:n.-461del
XR_950851.1:n.1221del
XM_011545946.2:c.431del XP_011544248.1:p.Lys144SerfsTer?
XM_011545947.2:c.431del XP_011544249.1:p.Lys144SerfsTer?
XM_011545948.2:c.-461del XP_011544250.1:n.-461del
XM_017023671.1:c.431del XP_016879160.1:p.Lys144SerfsTer?
XM_017023672.2:c.425del XP_016879161.1:p.Lys142SerfsTer?
XM_017023673.2:c.425del XP_016879162.1:p.Lys142SerfsTer?
NM_024675.4:c.425del MANE Select NP_078951.2:p.Lys142SerfsTer?