Canonical Allele Identifier: CA16615125
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 410145
dbSNP Id: rs1060502760

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636191del , CM000678.2:g.23636191del GRCh38
NC_000016.9:g.23647512del , CM000678.1:g.23647512del GRCh37
NC_000016.8:g.23555013del NCBI36
NG_007406.1:g.10167del , LRG_308:g.10167del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.361del ENSP00000460666.3:p.Gln121LysfsTer?
ENST00000565038.2:c.211+1659del ENSP00000459882.2:n.211+1659del
ENST00000566069.6:c.355del ENSP00000459237.2:p.Gln119LysfsTer?
ENST00000697377.2:c.361del ENSP00000513286.2:p.Gln121LysfsTer?
ENST00000697379.2:c.361del ENSP00000513287.2:p.Gln121LysfsTer?
ENST00000561514.2:c.-531del ENSP00000460666.2:n.-531del
ENST00000697374.1:c.-531del ENSP00000513284.1:n.-531del
ENST00000697375.1:n.1702del
ENST00000697376.1:c.-531del ENSP00000513285.1:n.-531del
ENST00000697377.1:c.-531del ENSP00000513286.1:n.-531del
ENST00000697378.1:n.875del
ENST00000697379.1:c.-531del ENSP00000513287.1:n.-531del
ENST00000697382.1:c.-531del ENSP00000513288.1:n.-531del
ENST00000697383.1:c.48+4919del ENSP00000513289.1:n.48+4919del
ENST00000697384.1:n.509del
ENST00000261584.9:c.355del MANE Select ENSP00000261584.4:p.Gln119LysfsTer?
ENST00000261584.8:c.355del ENSP00000261584.4:p.Gln119LysfsTer?
ENST00000565038.1:c.86+1659del
ENST00000567003.1:n.633del
ENST00000568219.5:c.-531del ENSP00000454703.2:n.-531del
NM_024675.3:c.355del , LRG_308t1:c.355del NP_078951.2:p.Gln119LysfsTer?
XM_011545946.1:c.361del XP_011544248.1:p.Gln121LysfsTer?
XM_011545947.1:c.361del XP_011544249.1:p.Gln121LysfsTer?
XM_011545948.1:c.-531del XP_011544250.1:n.-531del
XR_950851.1:n.1151del
XM_011545946.2:c.361del XP_011544248.1:p.Gln121LysfsTer?
XM_011545947.2:c.361del XP_011544249.1:p.Gln121LysfsTer?
XM_011545948.2:c.-531del XP_011544250.1:n.-531del
XM_017023671.1:c.361del XP_016879160.1:p.Gln121LysfsTer?
XM_017023672.2:c.355del XP_016879161.1:p.Gln119LysfsTer?
XM_017023673.2:c.355del XP_016879162.1:p.Gln119LysfsTer?
NM_024675.4:c.355del MANE Select NP_078951.2:p.Gln119LysfsTer?