Canonical Allele Identifier: CA2213428292
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635114_23635115delinsAG , CM000678.2:g.23635114_23635115delinsAG GRCh38
NC_000016.9:g.23646435_23646436delinsAG , CM000678.1:g.23646435_23646436delinsAG GRCh37
NC_000016.8:g.23553936_23553937delinsAG NCBI36
NG_007406.1:g.11243_11244delinsCT , LRG_308:g.11243_11244delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1437_1438delinsCT ENSP00000460666.3:p.Thr479=
ENST00000565038.2:c.211+2735_211+2736delinsCT ENSP00000459882.2:n.211+2735_211+2736delinsCT
ENST00000566069.6:c.1431_1432delinsCT ENSP00000459237.2:p.Thr477=
ENST00000697377.2:c.1437_1438delinsCT ENSP00000513286.2:p.Thr479=
ENST00000697379.2:c.1437_1438delinsCT ENSP00000513287.2:p.Thr479=
ENST00000561514.2:c.546_547delinsCT ENSP00000460666.2:p.Thr182=
ENST00000697374.1:c.546_547delinsCT ENSP00000513284.1:p.Thr182=
ENST00000697375.1:n.2778_2779delinsCT
ENST00000697376.1:c.546_547delinsCT ENSP00000513285.1:p.Thr182=
ENST00000697377.1:c.546_547delinsCT ENSP00000513286.1:p.Thr182=
ENST00000697378.1:n.1951_1952delinsCT
ENST00000697379.1:c.546_547delinsCT ENSP00000513287.1:p.Thr182=
ENST00000697382.1:c.546_547delinsCT ENSP00000513288.1:p.Thr182=
ENST00000697383.1:c.49-5840_49-5839delinsCT ENSP00000513289.1:n.49-5840_49-5839delinsCT
ENST00000697384.1:n.1585_1586delinsCT
ENST00000261584.9:c.1431_1432delinsCT MANE Select ENSP00000261584.4:p.Thr477=
ENST00000261584.8:c.1431_1432delinsCT ENSP00000261584.4:p.Thr477=
ENST00000565038.1:c.86+2735_86+2736delinsCT
ENST00000568219.5:c.546_547delinsCT ENSP00000454703.2:p.Thr182=
NM_024675.3:c.1431_1432delinsCT , LRG_308t1:c.1431_1432delinsCT NP_078951.2:p.Thr477=
XM_011545946.1:c.1437_1438delinsCT XP_011544248.1:p.Thr479=
XM_011545947.1:c.1437_1438delinsCT XP_011544249.1:p.Thr479=
XM_011545948.1:c.546_547delinsCT XP_011544250.1:p.Thr182=
XR_950851.1:n.2227_2228delinsCT
XM_011545946.2:c.1437_1438delinsCT XP_011544248.1:p.Thr479=
XM_011545947.2:c.1437_1438delinsCT XP_011544249.1:p.Thr479=
XM_011545948.2:c.546_547delinsCT XP_011544250.1:p.Thr182=
XM_017023671.1:c.1437_1438delinsCT XP_016879160.1:p.Thr479=
XM_017023672.2:c.1431_1432delinsCT XP_016879161.1:p.Thr477=
XM_017023673.2:c.1431_1432delinsCT XP_016879162.1:p.Thr477=
NM_024675.4:c.1431_1432delinsCT MANE Select NP_078951.2:p.Thr477=