Canonical Allele Identifier: CA16620122
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422509
ClinVar RCV Id: RCV002496872
dbSNP Id: rs1064795824

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623087del , CM000678.2:g.23623087del GRCh38
NC_000016.9:g.23634408del , CM000678.1:g.23634408del GRCh37
NC_000016.8:g.23541909del NCBI36
NG_007406.1:g.23271del , LRG_308:g.23271del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2884del ENSP00000460666.3:p.Leu962TyrfsTer2
ENST00000565038.2:c.*359del ENSP00000459882.2:n.*359del
ENST00000566069.6:c.2878del ENSP00000459237.2:p.Leu960TyrfsTer2
ENST00000697377.2:c.2722del ENSP00000513286.2:p.Leu908TyrfsTer2
ENST00000697379.2:c.2884del ENSP00000513287.2:p.Leu962TyrfsTer2
ENST00000561514.2:c.1993del ENSP00000460666.2:p.Leu665TyrfsTer2
ENST00000697374.1:c.1993del ENSP00000513284.1:p.Leu665TyrfsTer2
ENST00000697375.1:n.4225del
ENST00000697376.1:c.1993del ENSP00000513285.1:p.Leu665TyrfsTer2
ENST00000697377.1:c.1831del ENSP00000513286.1:p.Leu611TyrfsTer2
ENST00000697378.1:n.3398del
ENST00000697379.1:c.1993del ENSP00000513287.1:p.Leu665TyrfsTer2
ENST00000697380.1:n.2170del
ENST00000697381.1:n.1573del
ENST00000697382.1:c.1993del ENSP00000513288.1:p.Leu665TyrfsTer2
ENST00000697383.1:c.412del ENSP00000513289.1:p.Leu138TyrfsTer2
ENST00000261584.9:c.2878del MANE Select ENSP00000261584.4:p.Leu960TyrfsTer2
ENST00000261584.8:c.2878del ENSP00000261584.4:p.Leu960TyrfsTer2
ENST00000568219.5:c.1993del ENSP00000454703.2:p.Leu665TyrfsTer2
NM_024675.3:c.2878del , LRG_308t1:c.2878del NP_078951.2:p.Leu960TyrfsTer2
XM_011545946.1:c.2884del XP_011544248.1:p.Leu962TyrfsTer2
XM_011545947.1:c.2884del XP_011544249.1:p.Leu962TyrfsTer2
XM_011545948.1:c.1993del XP_011544250.1:p.Leu665TyrfsTer2
XR_950851.1:n.3674del
XM_011545946.2:c.2884del XP_011544248.1:p.Leu962TyrfsTer2
XM_011545947.2:c.2884del XP_011544249.1:p.Leu962TyrfsTer2
XM_011545948.2:c.1993del XP_011544250.1:p.Leu665TyrfsTer2
XM_017023671.1:c.2884del XP_016879160.1:p.Leu962TyrfsTer2
XM_017023672.2:c.2878del XP_016879161.1:p.Leu960TyrfsTer2
XM_017023673.2:c.2878del XP_016879162.1:p.Leu960TyrfsTer2
NM_024675.4:c.2878del MANE Select NP_078951.2:p.Leu960TyrfsTer2