Canonical Allele Identifier: CA16614862
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 410206
dbSNP Id: rs1060502800

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635592_23635593del , CM000678.2:g.23635592_23635593del GRCh38
NC_000016.9:g.23646913_23646914del , CM000678.1:g.23646913_23646914del GRCh37
NC_000016.8:g.23554414_23554415del NCBI36
NG_007406.1:g.10765_10766del , LRG_308:g.10765_10766del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.959_960del ENSP00000460666.3:p.Ser320IlefsTer2
ENST00000565038.2:c.211+2257_211+2258del ENSP00000459882.2:n.211+2257_211+2258del
ENST00000566069.6:c.953_954del ENSP00000459237.2:p.Ser318IlefsTer2
ENST00000697377.2:c.959_960del ENSP00000513286.2:p.Ser320IlefsTer2
ENST00000697379.2:c.959_960del ENSP00000513287.2:p.Ser320IlefsTer2
ENST00000561514.2:c.68_69del ENSP00000460666.2:p.Ser23IlefsTer2
ENST00000697374.1:c.68_69del ENSP00000513284.1:p.Ser23IlefsTer2
ENST00000697375.1:n.2300_2301del
ENST00000697376.1:c.68_69del ENSP00000513285.1:p.Ser23IlefsTer2
ENST00000697377.1:c.68_69del ENSP00000513286.1:p.Ser23IlefsTer2
ENST00000697378.1:n.1473_1474del
ENST00000697379.1:c.68_69del ENSP00000513287.1:p.Ser23IlefsTer2
ENST00000697382.1:c.68_69del ENSP00000513288.1:p.Ser23IlefsTer2
ENST00000697383.1:c.48+5517_48+5518del ENSP00000513289.1:n.48+5517_48+5518del
ENST00000697384.1:n.1107_1108del
ENST00000261584.9:c.953_954del MANE Select ENSP00000261584.4:p.Ser318IlefsTer2
ENST00000261584.8:c.953_954del ENSP00000261584.4:p.Ser318IlefsTer2
ENST00000565038.1:c.86+2257_86+2258del
ENST00000568219.5:c.68_69del ENSP00000454703.2:p.Ser23IlefsTer2
NM_024675.3:c.953_954del , LRG_308t1:c.953_954del NP_078951.2:p.Ser318IlefsTer2
XM_011545946.1:c.959_960del XP_011544248.1:p.Ser320IlefsTer2
XM_011545947.1:c.959_960del XP_011544249.1:p.Ser320IlefsTer2
XM_011545948.1:c.68_69del XP_011544250.1:p.Ser23IlefsTer2
XR_950851.1:n.1749_1750del
XM_011545946.2:c.959_960del XP_011544248.1:p.Ser320IlefsTer2
XM_011545947.2:c.959_960del XP_011544249.1:p.Ser320IlefsTer2
XM_011545948.2:c.68_69del XP_011544250.1:p.Ser23IlefsTer2
XM_017023671.1:c.959_960del XP_016879160.1:p.Ser320IlefsTer2
XM_017023672.2:c.953_954del XP_016879161.1:p.Ser318IlefsTer2
XM_017023673.2:c.953_954del XP_016879162.1:p.Ser318IlefsTer2
NM_024675.4:c.953_954del MANE Select NP_078951.2:p.Ser318IlefsTer2