Canonical Allele Identifier: CA16620144
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418393
ClinVar RCV Id: RCV000485530
dbSNP Id: rs1064793220

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635081del , CM000678.2:g.23635081del GRCh38
NC_000016.9:g.23646402del , CM000678.1:g.23646402del GRCh37
NC_000016.8:g.23553903del NCBI36
NG_007406.1:g.11277del , LRG_308:g.11277del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1471del ENSP00000460666.3:p.Ser491LeufsTer?
ENST00000565038.2:c.211+2769del ENSP00000459882.2:n.211+2769del
ENST00000566069.6:c.1465del ENSP00000459237.2:p.Ser489LeufsTer?
ENST00000697377.2:c.1471del ENSP00000513286.2:p.Ser491LeufsTer?
ENST00000697379.2:c.1471del ENSP00000513287.2:p.Ser491LeufsTer?
ENST00000561514.2:c.580del ENSP00000460666.2:p.Ser194LeufsTer?
ENST00000697374.1:c.580del ENSP00000513284.1:p.Ser194LeufsTer?
ENST00000697375.1:n.2812del
ENST00000697376.1:c.580del ENSP00000513285.1:p.Ser194LeufsTer?
ENST00000697377.1:c.580del ENSP00000513286.1:p.Ser194LeufsTer?
ENST00000697378.1:n.1985del
ENST00000697379.1:c.580del ENSP00000513287.1:p.Ser194LeufsTer?
ENST00000697382.1:c.580del ENSP00000513288.1:p.Ser194LeufsTer?
ENST00000697383.1:c.49-5806del ENSP00000513289.1:n.49-5806del
ENST00000697384.1:n.1619del
ENST00000261584.9:c.1465del MANE Select ENSP00000261584.4:p.Ser489LeufsTer?
ENST00000261584.8:c.1465del ENSP00000261584.4:p.Ser489LeufsTer?
ENST00000565038.1:c.86+2769del
ENST00000568219.5:c.580del ENSP00000454703.2:p.Ser194LeufsTer?
NM_024675.3:c.1465del , LRG_308t1:c.1465del NP_078951.2:p.Ser489LeufsTer?
XM_011545946.1:c.1471del XP_011544248.1:p.Ser491LeufsTer?
XM_011545947.1:c.1471del XP_011544249.1:p.Ser491LeufsTer?
XM_011545948.1:c.580del XP_011544250.1:p.Ser194LeufsTer?
XR_950851.1:n.2261del
XM_011545946.2:c.1471del XP_011544248.1:p.Ser491LeufsTer?
XM_011545947.2:c.1471del XP_011544249.1:p.Ser491LeufsTer?
XM_011545948.2:c.580del XP_011544250.1:p.Ser194LeufsTer?
XM_017023671.1:c.1471del XP_016879160.1:p.Ser491LeufsTer?
XM_017023672.2:c.1465del XP_016879161.1:p.Ser489LeufsTer?
XM_017023673.2:c.1465del XP_016879162.1:p.Ser489LeufsTer?
NM_024675.4:c.1465del MANE Select NP_078951.2:p.Ser489LeufsTer?