Canonical Allele Identifier: CA250432
Gene: PALB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 126609
dbSNP Id: rs180177102

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634957del , CM000678.2:g.23634957del GRCh38
NC_000016.9:g.23646278del , CM000678.1:g.23646278del GRCh37
NC_000016.8:g.23553779del NCBI36
NG_007406.1:g.11404del , LRG_308:g.11404del

Transcript Alleles

HGVS Amino-acid change
NM_024675.3:c.1592del , LRG_308t1:c.1592del NP_078951.2:p.Leu531CysfsTer30
XM_011545946.1:c.1598del XP_011544248.1:p.Leu533CysfsTer30
XM_011545947.1:c.1598del XP_011544249.1:p.Leu533CysfsTer30
XM_011545948.1:c.707del XP_011544250.1:p.Leu236CysfsTer30
XR_950851.1:n.2388del
XM_011545946.2:c.1598del XP_011544248.1:p.Leu533CysfsTer30
XM_011545947.2:c.1598del XP_011544249.1:p.Leu533CysfsTer30
XM_011545948.2:c.707del XP_011544250.1:p.Leu236CysfsTer30
XM_017023671.1:c.1598del XP_016879160.1:p.Leu533CysfsTer30
XM_017023672.2:c.1592del XP_016879161.1:p.Leu531CysfsTer30
XM_017023673.2:c.1592del XP_016879162.1:p.Leu531CysfsTer30
ENST00000261584.8:c.1592del ENSP00000261584.4:p.Leu531CysfsTer30
ENST00000565038.1:n.86+2896del
ENST00000568219.5:c.707del ENSP00000454703.2:p.Leu236CysfsTer30