Canonical Allele Identifier: CA1139664574
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 948205
ClinVar RCV Id: RCV001219418
dbSNP Id: rs1966773290

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621477del , CM000678.2:g.23621477del GRCh38
NC_000016.9:g.23632798del , CM000678.1:g.23632798del GRCh37
NC_000016.8:g.23540299del NCBI36
NG_007406.1:g.24882del , LRG_308:g.24882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3005del ENSP00000460666.3:p.Gly1002AlafsTer7
ENST00000565038.2:c.*480del ENSP00000459882.2:n.*480del
ENST00000566069.6:c.2999del ENSP00000459237.2:p.Gly1000AlafsTer7
ENST00000697377.2:c.2843del ENSP00000513286.2:p.Gly948AlafsTer7
ENST00000697379.2:c.3005del ENSP00000513287.2:p.Gly1002AlafsTer7
ENST00000561514.2:c.2114del ENSP00000460666.2:p.Gly705AlafsTer7
ENST00000697374.1:c.2114del ENSP00000513284.1:p.Gly705AlafsTer7
ENST00000697375.1:n.4346del
ENST00000697376.1:c.2114del ENSP00000513285.1:p.Gly705AlafsTer7
ENST00000697377.1:c.1952del ENSP00000513286.1:p.Gly651AlafsTer7
ENST00000697378.1:n.3519del
ENST00000697379.1:c.2114del ENSP00000513287.1:p.Gly705AlafsTer7
ENST00000697380.1:n.2291del
ENST00000697381.1:n.1694del
ENST00000697382.1:c.2114del ENSP00000513288.1:p.Gly705AlafsTer7
ENST00000697383.1:c.533del ENSP00000513289.1:p.Gly178AlafsTer7
ENST00000261584.9:c.2999del MANE Select ENSP00000261584.4:p.Gly1000AlafsTer7
ENST00000261584.8:c.2999del ENSP00000261584.4:p.Gly1000AlafsTer7
ENST00000568219.5:c.2114del ENSP00000454703.2:p.Gly705AlafsTer7
NM_024675.3:c.2999del , LRG_308t1:c.2999del NP_078951.2:p.Gly1000AlafsTer7
XM_011545946.1:c.3005del XP_011544248.1:p.Gly1002AlafsTer7
XM_011545947.1:c.3005del XP_011544249.1:p.Gly1002AlafsTer7
XM_011545948.1:c.2114del XP_011544250.1:p.Gly705AlafsTer7
XR_950851.1:n.3795del
XM_011545946.2:c.3005del XP_011544248.1:p.Gly1002AlafsTer7
XM_011545947.2:c.3005del XP_011544249.1:p.Gly1002AlafsTer7
XM_011545948.2:c.2114del XP_011544250.1:p.Gly705AlafsTer7
XM_017023671.1:c.3005del XP_016879160.1:p.Gly1002AlafsTer7
XM_017023672.2:c.2999del XP_016879161.1:p.Gly1000AlafsTer7
XM_017023673.2:c.2999del XP_016879162.1:p.Gly1000AlafsTer7
NM_024675.4:c.2999del MANE Select NP_078951.2:p.Gly1000AlafsTer7