Canonical Allele Identifier: CA913188738
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 922313
dbSNP Id: rs1967057228

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636253dup , CM000678.2:g.23636253dup GRCh38
NC_000016.9:g.23647574dup , CM000678.1:g.23647574dup GRCh37
NC_000016.8:g.23555075dup NCBI36
NG_007406.1:g.10105dup , LRG_308:g.10105dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.299dup ENSP00000460666.3:p.Thr101HisfsTer3
ENST00000565038.2:c.211+1597dup ENSP00000459882.2:n.211+1597dup
ENST00000566069.6:c.293dup ENSP00000459237.2:p.Thr99HisfsTer3
ENST00000697377.2:c.299dup ENSP00000513286.2:p.Thr101HisfsTer3
ENST00000697379.2:c.299dup ENSP00000513287.2:p.Thr101HisfsTer3
ENST00000561514.2:c.-593dup ENSP00000460666.2:n.-593dup
ENST00000697374.1:c.-593dup ENSP00000513284.1:n.-593dup
ENST00000697375.1:n.1640dup
ENST00000697376.1:c.-593dup ENSP00000513285.1:n.-593dup
ENST00000697377.1:c.-593dup ENSP00000513286.1:n.-593dup
ENST00000697378.1:n.813dup
ENST00000697379.1:c.-593dup ENSP00000513287.1:n.-593dup
ENST00000697382.1:c.-593dup ENSP00000513288.1:n.-593dup
ENST00000697383.1:c.48+4857dup ENSP00000513289.1:n.48+4857dup
ENST00000697384.1:n.447dup
ENST00000261584.9:c.293dup MANE Select ENSP00000261584.4:p.Thr99HisfsTer3
ENST00000261584.8:c.293dup ENSP00000261584.4:p.Thr99HisfsTer3
ENST00000565038.1:c.86+1597dup
ENST00000567003.1:n.571dup
ENST00000568219.5:c.-593dup ENSP00000454703.2:n.-593dup
NM_024675.3:c.293dup , LRG_308t1:c.293dup NP_078951.2:p.Thr99HisfsTer3
XM_011545946.1:c.299dup XP_011544248.1:p.Thr101HisfsTer3
XM_011545947.1:c.299dup XP_011544249.1:p.Thr101HisfsTer3
XM_011545948.1:c.-593dup XP_011544250.1:n.-593dup
XR_950851.1:n.1089dup
XM_011545946.2:c.299dup XP_011544248.1:p.Thr101HisfsTer3
XM_011545947.2:c.299dup XP_011544249.1:p.Thr101HisfsTer3
XM_011545948.2:c.-593dup XP_011544250.1:n.-593dup
XM_017023671.1:c.299dup XP_016879160.1:p.Thr101HisfsTer3
XM_017023672.2:c.293dup XP_016879161.1:p.Thr99HisfsTer3
XM_017023673.2:c.293dup XP_016879162.1:p.Thr99HisfsTer3
NM_024675.4:c.293dup MANE Select NP_078951.2:p.Thr99HisfsTer3