Canonical Allele Identifier: CA16620161
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422222
ClinVar RCV Id: RCV000487278 RCV001178087 RCV001238319
dbSNP Id: rs1064795640
MyVariant Identifiers: chr16:g.23647639_23647643del (hg19) chr16:g.23636318_23636322del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636324_23636328del , CM000678.2:g.23636324_23636328del GRCh38
NC_000016.9:g.23647645_23647649del , CM000678.1:g.23647645_23647649del GRCh37
NC_000016.8:g.23555146_23555150del NCBI36
NG_007406.1:g.10036_10040del , LRG_308:g.10036_10040del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.230_234del ENSP00000460666.3:p.Lys77MetfsTer4
ENST00000565038.2:c.211+1528_211+1532del ENSP00000459882.2:n.211+1528_211+1532del
ENST00000566069.6:c.224_228del ENSP00000459237.2:p.Lys75MetfsTer4
ENST00000697377.2:c.230_234del ENSP00000513286.2:p.Lys77MetfsTer4
ENST00000697379.2:c.230_234del ENSP00000513287.2:p.Lys77MetfsTer4
ENST00000561514.2:c.-662_-658del ENSP00000460666.2:n.-662_-658del
ENST00000697374.1:c.-662_-658del ENSP00000513284.1:n.-662_-658del
ENST00000697375.1:n.1571_1575del
ENST00000697376.1:c.-662_-658del ENSP00000513285.1:n.-662_-658del
ENST00000697377.1:c.-662_-658del ENSP00000513286.1:n.-662_-658del
ENST00000697378.1:n.744_748del
ENST00000697379.1:c.-662_-658del ENSP00000513287.1:n.-662_-658del
ENST00000697382.1:c.-662_-658del ENSP00000513288.1:n.-662_-658del
ENST00000697383.1:c.48+4788_48+4792del ENSP00000513289.1:n.48+4788_48+4792del
ENST00000697384.1:n.378_382del
ENST00000261584.9:c.224_228del MANE Select ENSP00000261584.4:p.Lys75MetfsTer4
ENST00000261584.8:c.224_228del ENSP00000261584.4:p.Lys75MetfsTer4
ENST00000561514.1:c.230_234del ENSP00000460666.1:p.Lys77MetfsTer4
ENST00000565038.1:c.86+1528_86+1532del
ENST00000567003.1:n.502_506del
ENST00000568219.5:c.-662_-658del ENSP00000454703.2:n.-662_-658del
NM_024675.3:c.224_228del , LRG_308t1:c.224_228del NP_078951.2:p.Lys75MetfsTer4
XM_011545946.1:c.230_234del XP_011544248.1:p.Lys77MetfsTer4
XM_011545947.1:c.230_234del XP_011544249.1:p.Lys77MetfsTer4
XM_011545948.1:c.-662_-658del XP_011544250.1:n.-662_-658del
XR_950851.1:n.1020_1024del
XM_011545946.2:c.230_234del XP_011544248.1:p.Lys77MetfsTer4
XM_011545947.2:c.230_234del XP_011544249.1:p.Lys77MetfsTer4
XM_011545948.2:c.-662_-658del XP_011544250.1:n.-662_-658del
XM_017023671.1:c.230_234del XP_016879160.1:p.Lys77MetfsTer4
XM_017023672.2:c.224_228del XP_016879161.1:p.Lys75MetfsTer4
XM_017023673.2:c.224_228del XP_016879162.1:p.Lys75MetfsTer4
NM_024675.4:c.224_228del MANE Select NP_078951.2:p.Lys75MetfsTer4
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