Canonical Allele Identifier: CA2838032597
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624018_23624019del , CM000678.2:g.23624018_23624019del GRCh38
NC_000016.9:g.23635339_23635340del , CM000678.1:g.23635339_23635340del GRCh37
NC_000016.8:g.23542840_23542841del NCBI36
NG_007406.1:g.22344_22345del , LRG_308:g.22344_22345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2835_2836del ENSP00000460666.3:p.Glu945AspfsTer9
ENST00000565038.2:c.*310_*311del ENSP00000459882.2:n.*310_*311del
ENST00000566069.6:c.2829_2830del ENSP00000459237.2:p.Glu943AspfsTer9
ENST00000697377.2:c.2673_2674del ENSP00000513286.2:p.Glu891AspfsTer9
ENST00000697379.2:c.2835_2836del ENSP00000513287.2:p.Glu945AspfsTer9
ENST00000561514.2:c.1944_1945del ENSP00000460666.2:p.Glu648AspfsTer9
ENST00000697374.1:c.1944_1945del ENSP00000513284.1:p.Glu648AspfsTer9
ENST00000697375.1:n.4176_4177del
ENST00000697376.1:c.1944_1945del ENSP00000513285.1:p.Glu648AspfsTer9
ENST00000697377.1:c.1782_1783del ENSP00000513286.1:p.Glu594AspfsTer9
ENST00000697378.1:n.3349_3350del
ENST00000697379.1:c.1944_1945del ENSP00000513287.1:p.Glu648AspfsTer9
ENST00000697380.1:n.2121_2122del
ENST00000697381.1:n.1524_1525del
ENST00000697382.1:c.1944_1945del ENSP00000513288.1:p.Glu648AspfsTer9
ENST00000697383.1:c.363_364del ENSP00000513289.1:p.Glu121AspfsTer9
ENST00000261584.9:c.2829_2830del MANE Select ENSP00000261584.4:p.Glu943AspfsTer9
ENST00000261584.8:c.2829_2830del ENSP00000261584.4:p.Glu943AspfsTer9
ENST00000568219.5:c.1944_1945del ENSP00000454703.2:p.Glu648AspfsTer9
NM_024675.3:c.2829_2830del , LRG_308t1:c.2829_2830del NP_078951.2:p.Glu943AspfsTer9
XM_011545946.1:c.2835_2836del XP_011544248.1:p.Glu945AspfsTer9
XM_011545947.1:c.2835_2836del XP_011544249.1:p.Glu945AspfsTer9
XM_011545948.1:c.1944_1945del XP_011544250.1:p.Glu648AspfsTer9
XR_950851.1:n.3625_3626del
XM_011545946.2:c.2835_2836del XP_011544248.1:p.Glu945AspfsTer9
XM_011545947.2:c.2835_2836del XP_011544249.1:p.Glu945AspfsTer9
XM_011545948.2:c.1944_1945del XP_011544250.1:p.Glu648AspfsTer9
XM_017023671.1:c.2835_2836del XP_016879160.1:p.Glu945AspfsTer9
XM_017023672.2:c.2829_2830del XP_016879161.1:p.Glu943AspfsTer9
XM_017023673.2:c.2829_2830del XP_016879162.1:p.Glu943AspfsTer9
NM_024675.4:c.2829_2830del MANE Select NP_078951.2:p.Glu943AspfsTer9