Canonical Allele Identifier: CA10576117
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225848
ClinVar RCV Id: RCV000211071
dbSNP Id: rs875989790

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635970dup , CM000678.2:g.23635970dup GRCh38
NC_000016.9:g.23647291dup , CM000678.1:g.23647291dup GRCh37
NC_000016.8:g.23554792dup NCBI36
NG_007406.1:g.10389dup , LRG_308:g.10389dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261584.9:c.577dup MANE Select ENSP00000261584.4:p.Thr193AsnfsTer2
ENST00000261584.8:c.577dup ENSP00000261584.4:p.Thr193AsnfsTer2
ENST00000565038.1:n.86+1881dup
ENST00000568219.5:c.-309dup ENSP00000454703.2:p.=
NM_024675.3:c.577dup , LRG_308t1:c.577dup NP_078951.2:p.Thr193AsnfsTer2
XM_011545946.1:c.583dup XP_011544248.1:p.Thr195AsnfsTer2
XM_011545947.1:c.583dup XP_011544249.1:p.Thr195AsnfsTer2
XM_011545948.1:c.-309dup XP_011544250.1:p.=
XR_950851.1:n.1373dup
XM_011545946.2:c.583dup XP_011544248.1:p.Thr195AsnfsTer2
XM_011545947.2:c.583dup XP_011544249.1:p.Thr195AsnfsTer2
XM_011545948.2:c.-309dup XP_011544250.1:p.=
XM_017023671.1:c.583dup XP_016879160.1:p.Thr195AsnfsTer2
XM_017023672.2:c.577dup XP_016879161.1:p.Thr193AsnfsTer2
XM_017023673.2:c.577dup XP_016879162.1:p.Thr193AsnfsTer2
NM_024675.4:c.577dup MANE Select NP_078951.2:p.Thr193AsnfsTer2