Canonical Allele Identifier: CA10579916
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233570
dbSNP Id: rs876660492

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603615_23603624del , CM000678.2:g.23603615_23603624del GRCh38
NC_000016.9:g.23614936_23614945del , CM000678.1:g.23614936_23614945del GRCh37
NC_000016.8:g.23522437_23522446del NCBI36
NG_007406.1:g.42734_42743del , LRG_308:g.42734_42743del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3402_3411del ENSP00000460666.3:p.Thr1135GlnfsTer27
ENST00000565038.2:c.*881_*890del ENSP00000459882.2:n.*881_*890del
ENST00000566069.6:c.*31_*40del ENSP00000459237.2:n.*31_*40del
ENST00000697377.2:c.3240_3249del ENSP00000513286.2:p.Thr1081GlnfsTer27
ENST00000697379.2:c.3402_3411del ENSP00000513287.2:p.Thr1135GlnfsTer27
ENST00000561514.2:c.2511_2520del ENSP00000460666.2:p.Thr838GlnfsTer27
ENST00000697374.1:c.2511_2520del ENSP00000513284.1:p.Thr838GlnfsTer27
ENST00000697375.1:n.4743_4752del
ENST00000697376.1:c.*31_*40del ENSP00000513285.1:n.*31_*40del
ENST00000697377.1:c.2349_2358del ENSP00000513286.1:p.Thr784GlnfsTer27
ENST00000697378.1:n.3916_3925del
ENST00000697379.1:c.2511_2520del ENSP00000513287.1:p.Thr838GlnfsTer27
ENST00000697380.1:n.2600_2609del
ENST00000697381.1:n.2091_2100del
ENST00000697382.1:c.*173_*182del ENSP00000513288.1:n.*173_*182del
ENST00000697383.1:c.930_939del ENSP00000513289.1:p.Thr311GlnfsTer27
ENST00000261584.9:c.3396_3405del MANE Select ENSP00000261584.4:p.Thr1133GlnfsTer27
ENST00000261584.8:c.3396_3405del ENSP00000261584.4:p.Thr1133GlnfsTer27
ENST00000566069.5:c.162_171del
ENST00000568219.5:c.2511_2520del ENSP00000454703.2:p.Thr838GlnfsTer27
NM_024675.3:c.3396_3405del , LRG_308t1:c.3396_3405del NP_078951.2:p.Thr1133GlnfsTer27
XM_011545946.1:c.3402_3411del XP_011544248.1:p.Thr1135GlnfsTer27
XM_011545947.1:c.*31_*40del XP_011544249.1:n.*31_*40del
XM_011545948.1:c.2511_2520del XP_011544250.1:p.Thr838GlnfsTer27
XR_950851.1:n.4104_4113del
XM_011545946.2:c.3402_3411del XP_011544248.1:p.Thr1135GlnfsTer27
XM_011545947.2:c.*31_*40del XP_011544249.1:n.*31_*40del
XM_011545948.2:c.2511_2520del XP_011544250.1:p.Thr838GlnfsTer27
XM_017023671.1:c.3165_3174del XP_016879160.1:p.Thr1056GlnfsTer27
XM_017023672.2:c.3159_3168del XP_016879161.1:p.Thr1054GlnfsTer27
XM_017023673.2:c.*31_*40del XP_016879162.1:n.*31_*40del
NM_024675.4:c.3396_3405del MANE Select NP_078951.2:p.Thr1133GlnfsTer27