Canonical Allele Identifier: CA2499223435

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1073140
• ClinVar RCV Id: RCV001386047
• dbSNP Id: rs2142415370

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635090_23635094del , CM000678.2:g.23635090_23635094del	GRCh38
NC_000016.9:g.23646411_23646415del , CM000678.1:g.23646411_23646415del	GRCh37
NC_000016.8:g.23553912_23553916del	NCBI36
NG_007406.1:g.11266_11270del , LRG_308:g.11266_11270del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1460_1464del	ENSP00000460666.3:p.Thr487SerfsTer9
ENST00000565038.2:c.211+2758_211+2762del	ENSP00000459882.2:n.211+2758_211+2762del
ENST00000566069.6:c.1454_1458del	ENSP00000459237.2:p.Thr485SerfsTer9
ENST00000697377.2:c.1460_1464del	ENSP00000513286.2:p.Thr487SerfsTer9
ENST00000697379.2:c.1460_1464del	ENSP00000513287.2:p.Thr487SerfsTer9
ENST00000561514.2:c.569_573del	ENSP00000460666.2:p.Thr190SerfsTer9
ENST00000697374.1:c.569_573del	ENSP00000513284.1:p.Thr190SerfsTer9
ENST00000697375.1:n.2801_2805del
ENST00000697376.1:c.569_573del	ENSP00000513285.1:p.Thr190SerfsTer9
ENST00000697377.1:c.569_573del	ENSP00000513286.1:p.Thr190SerfsTer9
ENST00000697378.1:n.1974_1978del
ENST00000697379.1:c.569_573del	ENSP00000513287.1:p.Thr190SerfsTer9
ENST00000697382.1:c.569_573del	ENSP00000513288.1:p.Thr190SerfsTer9
ENST00000697383.1:c.49-5817_49-5813del	ENSP00000513289.1:n.49-5817_49-5813del
ENST00000697384.1:n.1608_1612del
ENST00000261584.9:c.1454_1458del MANE Select	ENSP00000261584.4:p.Thr485SerfsTer9
ENST00000261584.8:c.1454_1458del	ENSP00000261584.4:p.Thr485SerfsTer9
ENST00000565038.1:c.86+2758_86+2762del
ENST00000568219.5:c.569_573del	ENSP00000454703.2:p.Thr190SerfsTer9
NM_024675.3:c.1454_1458del , LRG_308t1:c.1454_1458del	NP_078951.2:p.Thr485SerfsTer9
XM_011545946.1:c.1460_1464del	XP_011544248.1:p.Thr487SerfsTer9
XM_011545947.1:c.1460_1464del	XP_011544249.1:p.Thr487SerfsTer9
XM_011545948.1:c.569_573del	XP_011544250.1:p.Thr190SerfsTer9
XR_950851.1:n.2250_2254del
XM_011545946.2:c.1460_1464del	XP_011544248.1:p.Thr487SerfsTer9
XM_011545947.2:c.1460_1464del	XP_011544249.1:p.Thr487SerfsTer9
XM_011545948.2:c.569_573del	XP_011544250.1:p.Thr190SerfsTer9
XM_017023671.1:c.1460_1464del	XP_016879160.1:p.Thr487SerfsTer9
XM_017023672.2:c.1454_1458del	XP_016879161.1:p.Thr485SerfsTer9
XM_017023673.2:c.1454_1458del	XP_016879162.1:p.Thr485SerfsTer9
NM_024675.4:c.1454_1458del MANE Select	NP_078951.2:p.Thr485SerfsTer9