Canonical Allele Identifier: CA2697555750
Community Standard Title: NM_024675.4(PALB2):c.179_189del (p.Gln60LeufsTer10)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637876_23637886del , CM000678.2:g.23637876_23637886del GRCh38
NC_000016.9:g.23649197_23649207del , CM000678.1:g.23649197_23649207del GRCh37
NC_000016.8:g.23556698_23556708del NCBI36
NG_007406.1:g.8476_8486del , LRG_308:g.8476_8486del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.179_189del MANE Select NP_078951.2:p.Gln60LeufsTer10
ENST00000261584.9:c.179_189del MANE Select ENSP00000261584.4:p.Gln60LeufsTer10
NM_024675.3:c.179_189del , LRG_308t1:c.179_189del NP_078951.2:p.Gln60LeufsTer10
ENST00000261584.8:c.179_189del ENSP00000261584.4:p.Gln60LeufsTer10
ENST00000561514.1:c.185_195del ENSP00000460666.1:p.Gln62LeufsTer10
ENST00000561514.2:c.-707_-697del ENSP00000460666.2:n.-707_-697del
ENST00000561514.3:c.185_195del ENSP00000460666.3:p.Gln62LeufsTer10
ENST00000565038.1:c.54_64del
ENST00000565038.2:c.179_189del ENSP00000459882.2:p.Gln60LeufsTer20
ENST00000566069.6:c.179_189del ENSP00000459237.2:p.Gln60LeufsTer10
ENST00000567003.1:n.457_467del
ENST00000568219.5:c.-707_-697del ENSP00000454703.2:n.-707_-697del
ENST00000697374.1:c.-707_-697del ENSP00000513284.1:n.-707_-697del
ENST00000697375.1:n.1526_1536del
ENST00000697376.1:c.-707_-697del ENSP00000513285.1:n.-707_-697del
ENST00000697377.1:c.-707_-697del ENSP00000513286.1:n.-707_-697del
ENST00000697377.2:c.185_195del ENSP00000513286.2:p.Gln62LeufsTer10
ENST00000697378.1:n.699_709del
ENST00000697379.1:c.-707_-697del ENSP00000513287.1:n.-707_-697del
ENST00000697379.2:c.185_195del ENSP00000513287.2:p.Gln62LeufsTer10
ENST00000697382.1:c.-707_-697del ENSP00000513288.1:n.-707_-697del
ENST00000697383.1:c.48+3228_48+3238del ENSP00000513289.1:n.48+3228_48+3238del
ENST00000697384.1:n.333_343del
XM_011545946.1:c.185_195del XP_011544248.1:p.Gln62LeufsTer10
XM_011545946.2:c.185_195del XP_011544248.1:p.Gln62LeufsTer10
XM_011545947.1:c.185_195del XP_011544249.1:p.Gln62LeufsTer10
XM_011545947.2:c.185_195del XP_011544249.1:p.Gln62LeufsTer10
XM_011545948.1:c.-707_-697del XP_011544250.1:n.-707_-697del
XM_011545948.2:c.-707_-697del XP_011544250.1:n.-707_-697del
XM_017023671.1:c.185_195del XP_016879160.1:p.Gln62LeufsTer10
XM_017023672.2:c.179_189del XP_016879161.1:p.Gln60LeufsTer10
XM_017023673.2:c.179_189del XP_016879162.1:p.Gln60LeufsTer10
XR_950851.1:n.975_985del