Canonical Allele Identifier: CA16614875
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 410175
ClinVar RCV Id: RCV000461492
dbSNP Id: rs1555461846

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636265dup , CM000678.2:g.23636265dup GRCh38
NC_000016.9:g.23647586dup , CM000678.1:g.23647586dup GRCh37
NC_000016.8:g.23555087dup NCBI36
NG_007406.1:g.10096dup , LRG_308:g.10096dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.290dup ENSP00000460666.3:p.Thr98AspfsTer6
ENST00000565038.2:c.211+1588dup ENSP00000459882.2:n.211+1588dup
ENST00000566069.6:c.284dup ENSP00000459237.2:p.Thr96AspfsTer6
ENST00000697377.2:c.290dup ENSP00000513286.2:p.Thr98AspfsTer6
ENST00000697379.2:c.290dup ENSP00000513287.2:p.Thr98AspfsTer6
ENST00000561514.2:c.-602dup ENSP00000460666.2:n.-602dup
ENST00000697374.1:c.-602dup ENSP00000513284.1:n.-602dup
ENST00000697375.1:n.1631dup
ENST00000697376.1:c.-602dup ENSP00000513285.1:n.-602dup
ENST00000697377.1:c.-602dup ENSP00000513286.1:n.-602dup
ENST00000697378.1:n.804dup
ENST00000697379.1:c.-602dup ENSP00000513287.1:n.-602dup
ENST00000697382.1:c.-602dup ENSP00000513288.1:n.-602dup
ENST00000697383.1:c.48+4848dup ENSP00000513289.1:n.48+4848dup
ENST00000697384.1:n.438dup
ENST00000261584.9:c.284dup MANE Select ENSP00000261584.4:p.Thr96AspfsTer6
ENST00000261584.8:c.284dup ENSP00000261584.4:p.Thr96AspfsTer6
ENST00000565038.1:c.86+1588dup
ENST00000567003.1:n.562dup
ENST00000568219.5:c.-602dup ENSP00000454703.2:n.-602dup
NM_024675.3:c.284dup , LRG_308t1:c.284dup NP_078951.2:p.Thr96AspfsTer6
XM_011545946.1:c.290dup XP_011544248.1:p.Thr98AspfsTer6
XM_011545947.1:c.290dup XP_011544249.1:p.Thr98AspfsTer6
XM_011545948.1:c.-602dup XP_011544250.1:n.-602dup
XR_950851.1:n.1080dup
XM_011545946.2:c.290dup XP_011544248.1:p.Thr98AspfsTer6
XM_011545947.2:c.290dup XP_011544249.1:p.Thr98AspfsTer6
XM_011545948.2:c.-602dup XP_011544250.1:n.-602dup
XM_017023671.1:c.290dup XP_016879160.1:p.Thr98AspfsTer6
XM_017023672.2:c.284dup XP_016879161.1:p.Thr96AspfsTer6
XM_017023673.2:c.284dup XP_016879162.1:p.Thr96AspfsTer6
NM_024675.4:c.284dup MANE Select NP_078951.2:p.Thr96AspfsTer6