Canonical Allele Identifier: CA2580091373
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794306

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636283del , CM000678.2:g.23636283del GRCh38
NC_000016.9:g.23647604del , CM000678.1:g.23647604del GRCh37
NC_000016.8:g.23555105del NCBI36
NG_007406.1:g.10076del , LRG_308:g.10076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.270del ENSP00000460666.3:p.Asp91MetfsTer?
ENST00000565038.2:c.211+1568del ENSP00000459882.2:n.211+1568del
ENST00000566069.6:c.264del ENSP00000459237.2:p.Asp89MetfsTer?
ENST00000697377.2:c.270del ENSP00000513286.2:p.Asp91MetfsTer?
ENST00000697379.2:c.270del ENSP00000513287.2:p.Asp91MetfsTer?
ENST00000561514.2:c.-622del ENSP00000460666.2:n.-622del
ENST00000697374.1:c.-622del ENSP00000513284.1:n.-622del
ENST00000697375.1:n.1611del
ENST00000697376.1:c.-622del ENSP00000513285.1:n.-622del
ENST00000697377.1:c.-622del ENSP00000513286.1:n.-622del
ENST00000697378.1:n.784del
ENST00000697379.1:c.-622del ENSP00000513287.1:n.-622del
ENST00000697382.1:c.-622del ENSP00000513288.1:n.-622del
ENST00000697383.1:c.48+4828del ENSP00000513289.1:n.48+4828del
ENST00000697384.1:n.418del
ENST00000261584.9:c.264del MANE Select ENSP00000261584.4:p.Asp89MetfsTer?
ENST00000261584.8:c.264del ENSP00000261584.4:p.Asp89MetfsTer?
ENST00000565038.1:c.86+1568del
ENST00000567003.1:n.542del
ENST00000568219.5:c.-622del ENSP00000454703.2:n.-622del
NM_024675.3:c.264del , LRG_308t1:c.264del NP_078951.2:p.Asp89MetfsTer?
XM_011545946.1:c.270del XP_011544248.1:p.Asp91MetfsTer?
XM_011545947.1:c.270del XP_011544249.1:p.Asp91MetfsTer?
XM_011545948.1:c.-622del XP_011544250.1:n.-622del
XR_950851.1:n.1060del
XM_011545946.2:c.270del XP_011544248.1:p.Asp91MetfsTer?
XM_011545947.2:c.270del XP_011544249.1:p.Asp91MetfsTer?
XM_011545948.2:c.-622del XP_011544250.1:n.-622del
XM_017023671.1:c.270del XP_016879160.1:p.Asp91MetfsTer?
XM_017023672.2:c.264del XP_016879161.1:p.Asp89MetfsTer?
XM_017023673.2:c.264del XP_016879162.1:p.Asp89MetfsTer?
NM_024675.4:c.264del MANE Select NP_078951.2:p.Asp89MetfsTer?