Canonical Allele Identifier: CA2499223410
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048891
ClinVar RCV Id: RCV001354294
dbSNP Id: rs2142325910

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621359_23621640del , CM000678.2:g.23621359_23621640del GRCh38
NC_000016.9:g.23632680_23632961del , CM000678.1:g.23632680_23632961del GRCh37
NC_000016.8:g.23540181_23540462del NCBI36
NG_007406.1:g.24719_25000del , LRG_308:g.24719_25000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3003-161_3119+4del
ENST00000565038.2:c.*478-161_*594+4del
ENST00000566069.6:c.2997-161_3113+4del
ENST00000697377.2:c.2841-161_2957+4del
ENST00000697379.2:c.3003-161_3119+4del
ENST00000561514.2:c.2112-161_2228+4del
ENST00000697374.1:c.2112-161_2228+4del
ENST00000697375.1:n.4344-161_4460+4del
ENST00000697376.1:c.2112-161_2228+4del
ENST00000697377.1:c.1950-161_2066+4del
ENST00000697378.1:n.3517-161_3633+4del
ENST00000697379.1:c.2112-161_2228+4del
ENST00000697380.1:n.2289-161_2405+4del
ENST00000697381.1:n.1692-161_1808+4del
ENST00000697382.1:c.2112-161_2228+4del
ENST00000697383.1:c.531-161_647+4del
ENST00000261584.9:c.2997-161_3113+4del
ENST00000261584.8:c.2997-161_3113+4del
ENST00000568219.5:c.2112-161_2228+4del
NM_024675.3:c.2997-161_3113+4del , LRG_308t1:c.2997-161_3113+4del
XM_011545946.1:c.3003-161_3119+4del
XM_011545947.1:c.3003-161_3119+4del
XM_011545948.1:c.2112-161_2228+4del
XR_950851.1:n.3793-161_3909+4del
XM_011545946.2:c.3003-161_3119+4del
XM_011545947.2:c.3003-161_3119+4del
XM_011545948.2:c.2112-161_2228+4del
XM_017023671.1:c.3003-161_3119+4del
XM_017023672.2:c.2997-161_3113+4del
XM_017023673.2:c.2997-161_3113+4del
NM_024675.4:c.2997-161_3113+4del