Canonical Allele Identifier: CA2697555780
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704064
ClinVar RCV Id: RCV003501158

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603588del , CM000678.2:g.23603588del GRCh38
NC_000016.9:g.23614909del , CM000678.1:g.23614909del GRCh37
NC_000016.8:g.23522410del NCBI36
NG_007406.1:g.42770del , LRG_308:g.42770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3438del ENSP00000460666.3:p.Gly1147ValfsTer18
ENST00000565038.2:c.*917del ENSP00000459882.2:n.*917del
ENST00000566069.6:c.*67del ENSP00000459237.2:n.*67del
ENST00000697377.2:c.3276del ENSP00000513286.2:p.Gly1093ValfsTer18
ENST00000697379.2:c.3438del ENSP00000513287.2:p.Gly1147ValfsTer18
ENST00000561514.2:c.2547del ENSP00000460666.2:p.Gly850ValfsTer18
ENST00000697374.1:c.2547del ENSP00000513284.1:p.Gly850ValfsTer18
ENST00000697375.1:n.4779del
ENST00000697376.1:c.*67del ENSP00000513285.1:n.*67del
ENST00000697377.1:c.2385del ENSP00000513286.1:p.Gly796ValfsTer18
ENST00000697378.1:n.3952del
ENST00000697379.1:c.2547del ENSP00000513287.1:p.Gly850ValfsTer18
ENST00000697380.1:n.2636del
ENST00000697381.1:n.2127del
ENST00000697382.1:c.*209del ENSP00000513288.1:n.*209del
ENST00000697383.1:c.966del ENSP00000513289.1:p.Gly323ValfsTer18
ENST00000261584.9:c.3432del MANE Select ENSP00000261584.4:p.Gly1145ValfsTer18
ENST00000261584.8:c.3432del ENSP00000261584.4:p.Gly1145ValfsTer18
ENST00000566069.5:c.198del
ENST00000568219.5:c.2547del ENSP00000454703.2:p.Gly850ValfsTer18
NM_024675.3:c.3432del , LRG_308t1:c.3432del NP_078951.2:p.Gly1145ValfsTer18
XM_011545946.1:c.3438del XP_011544248.1:p.Gly1147ValfsTer18
XM_011545947.1:c.*67del XP_011544249.1:n.*67del
XM_011545948.1:c.2547del XP_011544250.1:p.Gly850ValfsTer18
XR_950851.1:n.4140del
XM_011545946.2:c.3438del XP_011544248.1:p.Gly1147ValfsTer18
XM_011545947.2:c.*67del XP_011544249.1:n.*67del
XM_011545948.2:c.2547del XP_011544250.1:p.Gly850ValfsTer18
XM_017023671.1:c.3201del XP_016879160.1:p.Gly1068ValfsTer18
XM_017023672.2:c.3195del XP_016879161.1:p.Gly1066ValfsTer18
XM_017023673.2:c.*67del XP_016879162.1:n.*67del
NM_024675.4:c.3432del MANE Select NP_078951.2:p.Gly1145ValfsTer18