Canonical Allele Identifier: CA2731917544
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1555461217

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634983_23634984del , CM000678.2:g.23634983_23634984del GRCh38
NC_000016.9:g.23646304_23646305del , CM000678.1:g.23646304_23646305del GRCh37
NC_000016.8:g.23553805_23553806del NCBI36
NG_007406.1:g.11376_11377del , LRG_308:g.11376_11377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1570_1571del ENSP00000460666.3:p.Pro524SerfsTer6
ENST00000565038.2:c.211+2868_211+2869del ENSP00000459882.2:n.211+2868_211+2869del
ENST00000566069.6:c.1564_1565del ENSP00000459237.2:p.Pro522SerfsTer6
ENST00000697377.2:c.1570_1571del ENSP00000513286.2:p.Pro524SerfsTer6
ENST00000697379.2:c.1570_1571del ENSP00000513287.2:p.Pro524SerfsTer6
ENST00000561514.2:c.679_680del ENSP00000460666.2:p.Pro227SerfsTer6
ENST00000697374.1:c.679_680del ENSP00000513284.1:p.Pro227SerfsTer6
ENST00000697375.1:n.2911_2912del
ENST00000697376.1:c.679_680del ENSP00000513285.1:p.Pro227SerfsTer6
ENST00000697377.1:c.679_680del ENSP00000513286.1:p.Pro227SerfsTer6
ENST00000697378.1:n.2084_2085del
ENST00000697379.1:c.679_680del ENSP00000513287.1:p.Pro227SerfsTer6
ENST00000697382.1:c.679_680del ENSP00000513288.1:p.Pro227SerfsTer6
ENST00000697383.1:c.49-5707_49-5706del ENSP00000513289.1:n.49-5707_49-5706del
ENST00000697384.1:n.1718_1719del
ENST00000261584.9:c.1564_1565del MANE Select ENSP00000261584.4:p.Pro522SerfsTer6
ENST00000261584.8:c.1564_1565del ENSP00000261584.4:p.Pro522SerfsTer6
ENST00000565038.1:c.86+2868_86+2869del
ENST00000568219.5:c.679_680del ENSP00000454703.2:p.Pro227SerfsTer6
NM_024675.3:c.1564_1565del , LRG_308t1:c.1564_1565del NP_078951.2:p.Pro522SerfsTer6
XM_011545946.1:c.1570_1571del XP_011544248.1:p.Pro524SerfsTer6
XM_011545947.1:c.1570_1571del XP_011544249.1:p.Pro524SerfsTer6
XM_011545948.1:c.679_680del XP_011544250.1:p.Pro227SerfsTer6
XR_950851.1:n.2360_2361del
XM_011545946.2:c.1570_1571del XP_011544248.1:p.Pro524SerfsTer6
XM_011545947.2:c.1570_1571del XP_011544249.1:p.Pro524SerfsTer6
XM_011545948.2:c.679_680del XP_011544250.1:p.Pro227SerfsTer6
XM_017023671.1:c.1570_1571del XP_016879160.1:p.Pro524SerfsTer6
XM_017023672.2:c.1564_1565del XP_016879161.1:p.Pro522SerfsTer6
XM_017023673.2:c.1564_1565del XP_016879162.1:p.Pro522SerfsTer6
NM_024675.4:c.1564_1565del MANE Select NP_078951.2:p.Pro522SerfsTer6