Canonical Allele Identifier: CA2837994604
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629270_23629271del , CM000678.2:g.23629270_23629271del GRCh38
NC_000016.9:g.23640591_23640592del , CM000678.1:g.23640591_23640592del GRCh37
NC_000016.8:g.23548092_23548093del NCBI36
NG_007406.1:g.17088_17089del , LRG_308:g.17088_17089del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2526_2527del ENSP00000460666.3:p.Glu842AspfsTer8
ENST00000565038.2:c.*1_*2del ENSP00000459882.2:n.*1_*2del
ENST00000566069.6:c.2520_2521del ENSP00000459237.2:p.Glu840AspfsTer8
ENST00000697377.2:c.2526_2527del ENSP00000513286.2:p.Glu842AspfsTer8
ENST00000697379.2:c.2526_2527del ENSP00000513287.2:p.Glu842AspfsTer8
ENST00000561514.2:c.1635_1636del ENSP00000460666.2:p.Glu545AspfsTer8
ENST00000697374.1:c.1635_1636del ENSP00000513284.1:p.Glu545AspfsTer8
ENST00000697375.1:n.3867_3868del
ENST00000697376.1:c.1635_1636del ENSP00000513285.1:p.Glu545AspfsTer8
ENST00000697377.1:c.1635_1636del ENSP00000513286.1:p.Glu545AspfsTer8
ENST00000697378.1:n.3040_3041del
ENST00000697379.1:c.1635_1636del ENSP00000513287.1:p.Glu545AspfsTer8
ENST00000697380.1:n.1812_1813del
ENST00000697381.1:n.1215_1216del
ENST00000697382.1:c.1635_1636del ENSP00000513288.1:p.Glu545AspfsTer8
ENST00000697383.1:c.54_55del ENSP00000513289.1:p.Glu18AspfsTer8
ENST00000697384.1:n.2674_2675del
ENST00000261584.9:c.2520_2521del MANE Select ENSP00000261584.4:p.Glu840AspfsTer8
ENST00000261584.8:c.2520_2521del ENSP00000261584.4:p.Glu840AspfsTer8
ENST00000565038.1:c.92_93del
ENST00000568219.5:c.1635_1636del ENSP00000454703.2:p.Glu545AspfsTer8
NM_024675.3:c.2520_2521del , LRG_308t1:c.2520_2521del NP_078951.2:p.Glu840AspfsTer8
XM_011545946.1:c.2526_2527del XP_011544248.1:p.Glu842AspfsTer8
XM_011545947.1:c.2526_2527del XP_011544249.1:p.Glu842AspfsTer8
XM_011545948.1:c.1635_1636del XP_011544250.1:p.Glu545AspfsTer8
XR_950851.1:n.3316_3317del
XM_011545946.2:c.2526_2527del XP_011544248.1:p.Glu842AspfsTer8
XM_011545947.2:c.2526_2527del XP_011544249.1:p.Glu842AspfsTer8
XM_011545948.2:c.1635_1636del XP_011544250.1:p.Glu545AspfsTer8
XM_017023671.1:c.2526_2527del XP_016879160.1:p.Glu842AspfsTer8
XM_017023672.2:c.2520_2521del XP_016879161.1:p.Glu840AspfsTer8
XM_017023673.2:c.2520_2521del XP_016879162.1:p.Glu840AspfsTer8
NM_024675.4:c.2520_2521del MANE Select NP_078951.2:p.Glu840AspfsTer8