Canonical Allele Identifier: CA3252641187
Community Standard Title: NM_024675.4(PALB2):c.209_211del (p.Ser70Ter)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637850_23637852del , CM000678.2:g.23637850_23637852del GRCh38
NC_000016.9:g.23649171_23649173del , CM000678.1:g.23649171_23649173del GRCh37
NC_000016.8:g.23556672_23556674del NCBI36
NG_007406.1:g.8506_8508del , LRG_308:g.8506_8508del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.209_211del MANE Select NP_078951.2:p.Ser70Ter
ENST00000261584.9:c.209_211del MANE Select ENSP00000261584.4:p.Ser70Ter
NM_024675.3:c.209_211del , LRG_308t1:c.209_211del NP_078951.2:p.Ser70Ter
ENST00000261584.8:c.209_211del ENSP00000261584.4:p.Ser70Ter
ENST00000561514.1:c.215_217del ENSP00000460666.1:p.Ser72Ter
ENST00000561514.2:c.-677_-675del ENSP00000460666.2:n.-677_-675del
ENST00000561514.3:c.215_217del ENSP00000460666.3:p.Ser72Ter
ENST00000565038.1:c.84_86del
ENST00000565038.2:c.209_211del ENSP00000459882.2:p.Ser70_Asp71delinsTyr
ENST00000566069.6:c.209_211del ENSP00000459237.2:p.Ser70Ter
ENST00000567003.1:n.487_489del
ENST00000568219.5:c.-677_-675del ENSP00000454703.2:n.-677_-675del
ENST00000697374.1:c.-677_-675del ENSP00000513284.1:n.-677_-675del
ENST00000697375.1:n.1556_1558del
ENST00000697376.1:c.-677_-675del ENSP00000513285.1:n.-677_-675del
ENST00000697377.1:c.-677_-675del ENSP00000513286.1:n.-677_-675del
ENST00000697377.2:c.215_217del ENSP00000513286.2:p.Ser72Ter
ENST00000697378.1:n.729_731del
ENST00000697379.1:c.-677_-675del ENSP00000513287.1:n.-677_-675del
ENST00000697379.2:c.215_217del ENSP00000513287.2:p.Ser72Ter
ENST00000697382.1:c.-677_-675del ENSP00000513288.1:n.-677_-675del
ENST00000697383.1:c.48+3258_48+3260del ENSP00000513289.1:n.48+3258_48+3260del
ENST00000697384.1:n.363_365del
XM_011545946.1:c.215_217del XP_011544248.1:p.Ser72Ter
XM_011545946.2:c.215_217del XP_011544248.1:p.Ser72Ter
XM_011545947.1:c.215_217del XP_011544249.1:p.Ser72Ter
XM_011545947.2:c.215_217del XP_011544249.1:p.Ser72Ter
XM_011545948.1:c.-677_-675del XP_011544250.1:n.-677_-675del
XM_011545948.2:c.-677_-675del XP_011544250.1:n.-677_-675del
XM_017023671.1:c.215_217del XP_016879160.1:p.Ser72Ter
XM_017023672.2:c.209_211del XP_016879161.1:p.Ser70Ter
XM_017023673.2:c.209_211del XP_016879162.1:p.Ser70Ter
XR_950851.1:n.1005_1007del