Canonical Allele Identifier: CA16609591
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 402303
dbSNP Id: rs1060499824

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623116del , CM000678.2:g.23623116del GRCh38
NC_000016.9:g.23634437del , CM000678.1:g.23634437del GRCh37
NC_000016.8:g.23541938del NCBI36
NG_007406.1:g.23243del , LRG_308:g.23243del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2856del ENSP00000460666.3:p.Ser953LeufsTer11
ENST00000565038.2:c.*331del ENSP00000459882.2:n.*331del
ENST00000566069.6:c.2850del ENSP00000459237.2:p.Ser951LeufsTer11
ENST00000697377.2:c.2694del ENSP00000513286.2:p.Ser899LeufsTer11
ENST00000697379.2:c.2856del ENSP00000513287.2:p.Ser953LeufsTer11
ENST00000561514.2:c.1965del ENSP00000460666.2:p.Ser656LeufsTer11
ENST00000697374.1:c.1965del ENSP00000513284.1:p.Ser656LeufsTer11
ENST00000697375.1:n.4197del
ENST00000697376.1:c.1965del ENSP00000513285.1:p.Ser656LeufsTer11
ENST00000697377.1:c.1803del ENSP00000513286.1:p.Ser602LeufsTer11
ENST00000697378.1:n.3370del
ENST00000697379.1:c.1965del ENSP00000513287.1:p.Ser656LeufsTer11
ENST00000697380.1:n.2142del
ENST00000697381.1:n.1545del
ENST00000697382.1:c.1965del ENSP00000513288.1:p.Ser656LeufsTer11
ENST00000697383.1:c.384del ENSP00000513289.1:p.Ser129LeufsTer11
ENST00000261584.9:c.2850del MANE Select ENSP00000261584.4:p.Ser951LeufsTer11
ENST00000261584.8:c.2850del ENSP00000261584.4:p.Ser951LeufsTer11
ENST00000568219.5:c.1965del ENSP00000454703.2:p.Ser656LeufsTer11
NM_024675.3:c.2850del , LRG_308t1:c.2850del NP_078951.2:p.Ser951LeufsTer11
XM_011545946.1:c.2856del XP_011544248.1:p.Ser953LeufsTer11
XM_011545947.1:c.2856del XP_011544249.1:p.Ser953LeufsTer11
XM_011545948.1:c.1965del XP_011544250.1:p.Ser656LeufsTer11
XR_950851.1:n.3646del
XM_011545946.2:c.2856del XP_011544248.1:p.Ser953LeufsTer11
XM_011545947.2:c.2856del XP_011544249.1:p.Ser953LeufsTer11
XM_011545948.2:c.1965del XP_011544250.1:p.Ser656LeufsTer11
XM_017023671.1:c.2856del XP_016879160.1:p.Ser953LeufsTer11
XM_017023672.2:c.2850del XP_016879161.1:p.Ser951LeufsTer11
XM_017023673.2:c.2850del XP_016879162.1:p.Ser951LeufsTer11
NM_024675.4:c.2850del MANE Select NP_078951.2:p.Ser951LeufsTer11