Canonical Allele Identifier: CA2695197478
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674065
ClinVar RCV Id: RCV003452261

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635155del , CM000678.2:g.23635155del GRCh38
NC_000016.9:g.23646476del , CM000678.1:g.23646476del GRCh37
NC_000016.8:g.23553977del NCBI36
NG_007406.1:g.11204del , LRG_308:g.11204del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1398del ENSP00000460666.3:p.Met467CysfsTer20
ENST00000565038.2:c.211+2696del ENSP00000459882.2:n.211+2696del
ENST00000566069.6:c.1392del ENSP00000459237.2:p.Met465CysfsTer20
ENST00000697377.2:c.1398del ENSP00000513286.2:p.Met467CysfsTer20
ENST00000697379.2:c.1398del ENSP00000513287.2:p.Met467CysfsTer20
ENST00000561514.2:c.507del ENSP00000460666.2:p.Met170CysfsTer20
ENST00000697374.1:c.507del ENSP00000513284.1:p.Met170CysfsTer20
ENST00000697375.1:n.2739del
ENST00000697376.1:c.507del ENSP00000513285.1:p.Met170CysfsTer20
ENST00000697377.1:c.507del ENSP00000513286.1:p.Met170CysfsTer20
ENST00000697378.1:n.1912del
ENST00000697379.1:c.507del ENSP00000513287.1:p.Met170CysfsTer20
ENST00000697382.1:c.507del ENSP00000513288.1:p.Met170CysfsTer20
ENST00000697383.1:c.49-5879del ENSP00000513289.1:n.49-5879del
ENST00000697384.1:n.1546del
ENST00000261584.9:c.1392del MANE Select ENSP00000261584.4:p.Met465CysfsTer20
ENST00000261584.8:c.1392del ENSP00000261584.4:p.Met465CysfsTer20
ENST00000565038.1:c.86+2696del
ENST00000568219.5:c.507del ENSP00000454703.2:p.Met170CysfsTer20
NM_024675.3:c.1392del , LRG_308t1:c.1392del NP_078951.2:p.Met465CysfsTer20
XM_011545946.1:c.1398del XP_011544248.1:p.Met467CysfsTer20
XM_011545947.1:c.1398del XP_011544249.1:p.Met467CysfsTer20
XM_011545948.1:c.507del XP_011544250.1:p.Met170CysfsTer20
XR_950851.1:n.2188del
XM_011545946.2:c.1398del XP_011544248.1:p.Met467CysfsTer20
XM_011545947.2:c.1398del XP_011544249.1:p.Met467CysfsTer20
XM_011545948.2:c.507del XP_011544250.1:p.Met170CysfsTer20
XM_017023671.1:c.1398del XP_016879160.1:p.Met467CysfsTer20
XM_017023672.2:c.1392del XP_016879161.1:p.Met465CysfsTer20
XM_017023673.2:c.1392del XP_016879162.1:p.Met465CysfsTer20
NM_024675.4:c.1392del MANE Select NP_078951.2:p.Met465CysfsTer20