Canonical Allele Identifier: CA16042144
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371840
dbSNP Id: rs1057517563

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603596del , CM000678.2:g.23603596del GRCh38
NC_000016.9:g.23614917del , CM000678.1:g.23614917del GRCh37
NC_000016.8:g.23522418del NCBI36
NG_007406.1:g.42763del , LRG_308:g.42763del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3431del ENSP00000460666.3:p.Leu1144TyrfsTer21
ENST00000565038.2:c.*910del ENSP00000459882.2:n.*910del
ENST00000566069.6:c.*60del ENSP00000459237.2:n.*60del
ENST00000697377.2:c.3269del ENSP00000513286.2:p.Leu1090TyrfsTer21
ENST00000697379.2:c.3431del ENSP00000513287.2:p.Leu1144TyrfsTer21
ENST00000561514.2:c.2540del ENSP00000460666.2:p.Leu847TyrfsTer21
ENST00000697374.1:c.2540del ENSP00000513284.1:p.Leu847TyrfsTer21
ENST00000697375.1:n.4772del
ENST00000697376.1:c.*60del ENSP00000513285.1:n.*60del
ENST00000697377.1:c.2378del ENSP00000513286.1:p.Leu793TyrfsTer21
ENST00000697378.1:n.3945del
ENST00000697379.1:c.2540del ENSP00000513287.1:p.Leu847TyrfsTer21
ENST00000697380.1:n.2629del
ENST00000697381.1:n.2120del
ENST00000697382.1:c.*202del ENSP00000513288.1:n.*202del
ENST00000697383.1:c.959del ENSP00000513289.1:p.Leu320TyrfsTer21
ENST00000261584.9:c.3425del MANE Select ENSP00000261584.4:p.Leu1142TyrfsTer21
ENST00000261584.8:c.3425del ENSP00000261584.4:p.Leu1142TyrfsTer21
ENST00000566069.5:c.191del
ENST00000568219.5:c.2540del ENSP00000454703.2:p.Leu847TyrfsTer21
NM_024675.3:c.3425del , LRG_308t1:c.3425del NP_078951.2:p.Leu1142TyrfsTer21
XM_011545946.1:c.3431del XP_011544248.1:p.Leu1144TyrfsTer21
XM_011545947.1:c.*60del XP_011544249.1:n.*60del
XM_011545948.1:c.2540del XP_011544250.1:p.Leu847TyrfsTer21
XR_950851.1:n.4133del
XM_011545946.2:c.3431del XP_011544248.1:p.Leu1144TyrfsTer21
XM_011545947.2:c.*60del XP_011544249.1:n.*60del
XM_011545948.2:c.2540del XP_011544250.1:p.Leu847TyrfsTer21
XM_017023671.1:c.3194del XP_016879160.1:p.Leu1065TyrfsTer21
XM_017023672.2:c.3188del XP_016879161.1:p.Leu1063TyrfsTer21
XM_017023673.2:c.*60del XP_016879162.1:n.*60del
NM_024675.4:c.3425del MANE Select NP_078951.2:p.Leu1142TyrfsTer21