Canonical Allele Identifier: CA2582342513
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583804

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635535dup , CM000678.2:g.23635535dup GRCh38
NC_000016.9:g.23646856dup , CM000678.1:g.23646856dup GRCh37
NC_000016.8:g.23554357dup NCBI36
NG_007406.1:g.10823dup , LRG_308:g.10823dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1017dup ENSP00000460666.3:p.Pro340ThrfsTer4
ENST00000565038.2:c.211+2315dup ENSP00000459882.2:n.211+2315dup
ENST00000566069.6:c.1011dup ENSP00000459237.2:p.Pro338ThrfsTer4
ENST00000697377.2:c.1017dup ENSP00000513286.2:p.Pro340ThrfsTer4
ENST00000697379.2:c.1017dup ENSP00000513287.2:p.Pro340ThrfsTer4
ENST00000561514.2:c.126dup ENSP00000460666.2:p.Pro43ThrfsTer4
ENST00000697374.1:c.126dup ENSP00000513284.1:p.Pro43ThrfsTer4
ENST00000697375.1:n.2358dup
ENST00000697376.1:c.126dup ENSP00000513285.1:p.Pro43ThrfsTer4
ENST00000697377.1:c.126dup ENSP00000513286.1:p.Pro43ThrfsTer4
ENST00000697378.1:n.1531dup
ENST00000697379.1:c.126dup ENSP00000513287.1:p.Pro43ThrfsTer4
ENST00000697382.1:c.126dup ENSP00000513288.1:p.Pro43ThrfsTer4
ENST00000697383.1:c.48+5575dup ENSP00000513289.1:n.48+5575dup
ENST00000697384.1:n.1165dup
ENST00000261584.9:c.1011dup MANE Select ENSP00000261584.4:p.Pro338ThrfsTer4
ENST00000261584.8:c.1011dup ENSP00000261584.4:p.Pro338ThrfsTer4
ENST00000565038.1:c.86+2315dup
ENST00000568219.5:c.126dup ENSP00000454703.2:p.Pro43ThrfsTer4
NM_024675.3:c.1011dup , LRG_308t1:c.1011dup NP_078951.2:p.Pro338ThrfsTer4
XM_011545946.1:c.1017dup XP_011544248.1:p.Pro340ThrfsTer4
XM_011545947.1:c.1017dup XP_011544249.1:p.Pro340ThrfsTer4
XM_011545948.1:c.126dup XP_011544250.1:p.Pro43ThrfsTer4
XR_950851.1:n.1807dup
XM_011545946.2:c.1017dup XP_011544248.1:p.Pro340ThrfsTer4
XM_011545947.2:c.1017dup XP_011544249.1:p.Pro340ThrfsTer4
XM_011545948.2:c.126dup XP_011544250.1:p.Pro43ThrfsTer4
XM_017023671.1:c.1017dup XP_016879160.1:p.Pro340ThrfsTer4
XM_017023672.2:c.1011dup XP_016879161.1:p.Pro338ThrfsTer4
XM_017023673.2:c.1011dup XP_016879162.1:p.Pro338ThrfsTer4
NM_024675.4:c.1011dup MANE Select NP_078951.2:p.Pro338ThrfsTer4