Canonical Allele Identifier: CA10579969
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230043
ClinVar RCV Id: RCV000217072 RCV000686532 RCV001800544 RCV003165554
dbSNP Id: rs876658348
gnomAD v4: 16-23629683-CA-C
MyVariant Identifiers: chr16:g.23641005del (hg19) chr16:g.23629684del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629684del , CM000678.2:g.23629684del GRCh38
NC_000016.9:g.23641005del , CM000678.1:g.23641005del GRCh37
NC_000016.8:g.23548506del NCBI36
NG_007406.1:g.16674del , LRG_308:g.16674del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2476del ENSP00000460666.3:p.Cys826ValfsTer27
ENST00000565038.2:c.212-409del ENSP00000459882.2:n.212-409del
ENST00000566069.6:c.2470del ENSP00000459237.2:p.Cys824ValfsTer27
ENST00000697377.2:c.2476del ENSP00000513286.2:p.Cys826ValfsTer27
ENST00000697379.2:c.2476del ENSP00000513287.2:p.Cys826ValfsTer27
ENST00000561514.2:c.1585del ENSP00000460666.2:p.Cys529ValfsTer27
ENST00000697374.1:c.1585del ENSP00000513284.1:p.Cys529ValfsTer27
ENST00000697375.1:n.3817del
ENST00000697376.1:c.1585del ENSP00000513285.1:p.Cys529ValfsTer27
ENST00000697377.1:c.1585del ENSP00000513286.1:p.Cys529ValfsTer27
ENST00000697378.1:n.2990del
ENST00000697379.1:c.1585del ENSP00000513287.1:p.Cys529ValfsTer27
ENST00000697380.1:n.1398del
ENST00000697381.1:n.1165del
ENST00000697382.1:c.1585del ENSP00000513288.1:p.Cys529ValfsTer27
ENST00000697383.1:c.49-409del ENSP00000513289.1:n.49-409del
ENST00000697384.1:n.2624del
ENST00000261584.9:c.2470del MANE Select ENSP00000261584.4:p.Cys824ValfsTer27
ENST00000261584.8:c.2470del ENSP00000261584.4:p.Cys824ValfsTer27
ENST00000565038.1:c.87-409del
ENST00000568219.5:c.1585del ENSP00000454703.2:p.Cys529ValfsTer27
NM_024675.3:c.2470del , LRG_308t1:c.2470del NP_078951.2:p.Cys824ValfsTer27
XM_011545946.1:c.2476del XP_011544248.1:p.Cys826ValfsTer27
XM_011545947.1:c.2476del XP_011544249.1:p.Cys826ValfsTer27
XM_011545948.1:c.1585del XP_011544250.1:p.Cys529ValfsTer27
XR_950851.1:n.3266del
XM_011545946.2:c.2476del XP_011544248.1:p.Cys826ValfsTer27
XM_011545947.2:c.2476del XP_011544249.1:p.Cys826ValfsTer27
XM_011545948.2:c.1585del XP_011544250.1:p.Cys529ValfsTer27
XM_017023671.1:c.2476del XP_016879160.1:p.Cys826ValfsTer27
XM_017023672.2:c.2470del XP_016879161.1:p.Cys824ValfsTer27
XM_017023673.2:c.2470del XP_016879162.1:p.Cys824ValfsTer27
NM_024675.4:c.2470del MANE Select NP_078951.2:p.Cys824ValfsTer27
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