Canonical Allele Identifier: CA269577
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126687
ClinVar RCV Id: RCV001030350
dbSNP Id: rs515726098

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623984_23623990del , CM000678.2:g.23623984_23623990del GRCh38
NC_000016.9:g.23635305_23635311del , CM000678.1:g.23635305_23635311del GRCh37
NC_000016.8:g.23542806_23542812del NCBI36
NG_007406.1:g.22370_22376del , LRG_308:g.22370_22376del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2840+21_2840+27del ENSP00000460666.3:n.2840+21_2840+27del
ENST00000565038.2:c.*315+21_*315+27del ENSP00000459882.2:n.*315+21_*315+27del
ENST00000566069.6:c.2834+21_2834+27del ENSP00000459237.2:n.2834+21_2834+27del
ENST00000697377.2:c.2678+21_2678+27del ENSP00000513286.2:n.2678+21_2678+27del
ENST00000697379.2:c.2840+21_2840+27del ENSP00000513287.2:n.2840+21_2840+27del
ENST00000561514.2:c.1949+21_1949+27del ENSP00000460666.2:n.1949+21_1949+27del
ENST00000697374.1:c.1949+21_1949+27del ENSP00000513284.1:n.1949+21_1949+27del
ENST00000697375.1:n.4181+21_4181+27del
ENST00000697376.1:c.1949+21_1949+27del ENSP00000513285.1:n.1949+21_1949+27del
ENST00000697377.1:c.1787+21_1787+27del ENSP00000513286.1:n.1787+21_1787+27del
ENST00000697378.1:n.3354+21_3354+27del
ENST00000697379.1:c.1949+21_1949+27del ENSP00000513287.1:n.1949+21_1949+27del
ENST00000697380.1:n.2126+21_2126+27del
ENST00000697381.1:n.1529+21_1529+27del
ENST00000697382.1:c.1949+21_1949+27del ENSP00000513288.1:n.1949+21_1949+27del
ENST00000697383.1:c.368+21_368+27del ENSP00000513289.1:n.368+21_368+27del
ENST00000261584.9:c.2834+21_2834+27del MANE Select ENSP00000261584.4:n.2834+21_2834+27del
ENST00000261584.8:c.2834+21_2834+27del ENSP00000261584.4:n.2834+21_2834+27del
ENST00000568219.5:c.1949+21_1949+27del ENSP00000454703.2:n.1949+21_1949+27del
NM_024675.3:c.2834+21_2834+27del , LRG_308t1:c.2834+21_2834+27del NP_078951.2:n.2834+21_2834+27del
XM_011545946.1:c.2840+21_2840+27del XP_011544248.1:n.2840+21_2840+27del
XM_011545947.1:c.2840+21_2840+27del XP_011544249.1:n.2840+21_2840+27del
XM_011545948.1:c.1949+21_1949+27del XP_011544250.1:n.1949+21_1949+27del
XR_950851.1:n.3630+21_3630+27del
XM_011545946.2:c.2840+21_2840+27del XP_011544248.1:n.2840+21_2840+27del
XM_011545947.2:c.2840+21_2840+27del XP_011544249.1:n.2840+21_2840+27del
XM_011545948.2:c.1949+21_1949+27del XP_011544250.1:n.1949+21_1949+27del
XM_017023671.1:c.2840+21_2840+27del XP_016879160.1:n.2840+21_2840+27del
XM_017023672.2:c.2834+21_2834+27del XP_016879161.1:n.2834+21_2834+27del
XM_017023673.2:c.2834+21_2834+27del XP_016879162.1:n.2834+21_2834+27del
NM_024675.4:c.2834+21_2834+27del MANE Select NP_078951.2:n.2834+21_2834+27del