Canonical Allele Identifier: CA501065
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630296_23630302del , CM000678.2:g.23630296_23630302del GRCh38
NC_000016.9:g.23641617_23641623del , CM000678.1:g.23641617_23641623del GRCh37
NC_000016.8:g.23549118_23549124del NCBI36
NG_007406.1:g.16059_16065del , LRG_308:g.16059_16065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1861_1867del ENSP00000460666.3:p.Phe621LeufsTer7
ENST00000565038.2:c.212-1024_212-1018del ENSP00000459882.2:n.212-1024_212-1018del
ENST00000566069.6:c.1855_1861del ENSP00000459237.2:p.Phe619LeufsTer7
ENST00000697377.2:c.1861_1867del ENSP00000513286.2:p.Phe621LeufsTer7
ENST00000697379.2:c.1861_1867del ENSP00000513287.2:p.Phe621LeufsTer7
ENST00000561514.2:c.970_976del ENSP00000460666.2:p.Phe324LeufsTer7
ENST00000697374.1:c.970_976del ENSP00000513284.1:p.Phe324LeufsTer7
ENST00000697375.1:n.3202_3208del
ENST00000697376.1:c.970_976del ENSP00000513285.1:p.Phe324LeufsTer7
ENST00000697377.1:c.970_976del ENSP00000513286.1:p.Phe324LeufsTer7
ENST00000697378.1:n.2375_2381del
ENST00000697379.1:c.970_976del ENSP00000513287.1:p.Phe324LeufsTer7
ENST00000697380.1:n.783_789del
ENST00000697381.1:n.550_556del
ENST00000697382.1:c.970_976del ENSP00000513288.1:p.Phe324LeufsTer7
ENST00000697383.1:c.49-1024_49-1018del ENSP00000513289.1:n.49-1024_49-1018del
ENST00000697384.1:n.2009_2015del
ENST00000261584.9:c.1855_1861del MANE Select ENSP00000261584.4:p.Phe619LeufsTer7
ENST00000261584.8:c.1855_1861del ENSP00000261584.4:p.Phe619LeufsTer7
ENST00000565038.1:c.87-1024_87-1018del
ENST00000568219.5:c.970_976del ENSP00000454703.2:p.Phe324LeufsTer7
NM_024675.3:c.1855_1861del , LRG_308t1:c.1855_1861del NP_078951.2:p.Phe619LeufsTer7
XM_011545946.1:c.1861_1867del XP_011544248.1:p.Phe621LeufsTer7
XM_011545947.1:c.1861_1867del XP_011544249.1:p.Phe621LeufsTer7
XM_011545948.1:c.970_976del XP_011544250.1:p.Phe324LeufsTer7
XR_950851.1:n.2651_2657del
XM_011545946.2:c.1861_1867del XP_011544248.1:p.Phe621LeufsTer7
XM_011545947.2:c.1861_1867del XP_011544249.1:p.Phe621LeufsTer7
XM_011545948.2:c.970_976del XP_011544250.1:p.Phe324LeufsTer7
XM_017023671.1:c.1861_1867del XP_016879160.1:p.Phe621LeufsTer7
XM_017023672.2:c.1855_1861del XP_016879161.1:p.Phe619LeufsTer7
XM_017023673.2:c.1855_1861del XP_016879162.1:p.Phe619LeufsTer7
NM_024675.4:c.1855_1861del MANE Select NP_078951.2:p.Phe619LeufsTer7