Canonical Allele Identifier: CA16609597
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 402295
ClinVar RCV Id: RCV000454322 RCV002526374
dbSNP Id: rs1060499818
MyVariant Identifiers: chr16:g.23641657_23641658del (hg19) chr16:g.23630336_23630337del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630338_23630339del , CM000678.2:g.23630338_23630339del GRCh38
NC_000016.9:g.23641659_23641660del , CM000678.1:g.23641659_23641660del GRCh37
NC_000016.8:g.23549160_23549161del NCBI36
NG_007406.1:g.16021_16022del , LRG_308:g.16021_16022del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1823_1824del ENSP00000460666.3:p.Phe608SerfsTer10
ENST00000565038.2:c.212-1062_212-1061del ENSP00000459882.2:n.212-1062_212-1061del
ENST00000566069.6:c.1817_1818del ENSP00000459237.2:p.Phe606SerfsTer10
ENST00000697377.2:c.1823_1824del ENSP00000513286.2:p.Phe608SerfsTer10
ENST00000697379.2:c.1823_1824del ENSP00000513287.2:p.Phe608SerfsTer10
ENST00000561514.2:c.932_933del ENSP00000460666.2:p.Phe311SerfsTer10
ENST00000697374.1:c.932_933del ENSP00000513284.1:p.Phe311SerfsTer10
ENST00000697375.1:n.3164_3165del
ENST00000697376.1:c.932_933del ENSP00000513285.1:p.Phe311SerfsTer10
ENST00000697377.1:c.932_933del ENSP00000513286.1:p.Phe311SerfsTer10
ENST00000697378.1:n.2337_2338del
ENST00000697379.1:c.932_933del ENSP00000513287.1:p.Phe311SerfsTer10
ENST00000697380.1:n.745_746del
ENST00000697381.1:n.512_513del
ENST00000697382.1:c.932_933del ENSP00000513288.1:p.Phe311SerfsTer10
ENST00000697383.1:c.49-1062_49-1061del ENSP00000513289.1:n.49-1062_49-1061del
ENST00000697384.1:n.1971_1972del
ENST00000261584.9:c.1817_1818del MANE Select ENSP00000261584.4:p.Phe606SerfsTer10
ENST00000261584.8:c.1817_1818del ENSP00000261584.4:p.Phe606SerfsTer10
ENST00000565038.1:c.87-1062_87-1061del
ENST00000568219.5:c.932_933del ENSP00000454703.2:p.Phe311SerfsTer10
NM_024675.3:c.1817_1818del , LRG_308t1:c.1817_1818del NP_078951.2:p.Phe606SerfsTer10
XM_011545946.1:c.1823_1824del XP_011544248.1:p.Phe608SerfsTer10
XM_011545947.1:c.1823_1824del XP_011544249.1:p.Phe608SerfsTer10
XM_011545948.1:c.932_933del XP_011544250.1:p.Phe311SerfsTer10
XR_950851.1:n.2613_2614del
XM_011545946.2:c.1823_1824del XP_011544248.1:p.Phe608SerfsTer10
XM_011545947.2:c.1823_1824del XP_011544249.1:p.Phe608SerfsTer10
XM_011545948.2:c.932_933del XP_011544250.1:p.Phe311SerfsTer10
XM_017023671.1:c.1823_1824del XP_016879160.1:p.Phe608SerfsTer10
XM_017023672.2:c.1817_1818del XP_016879161.1:p.Phe606SerfsTer10
XM_017023673.2:c.1817_1818del XP_016879162.1:p.Phe606SerfsTer10
NM_024675.4:c.1817_1818del MANE Select NP_078951.2:p.Phe606SerfsTer10
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