Canonical Allele Identifier: CA170017
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143011
ClinVar RCV Id: RCV000132530 RCV001849949
dbSNP Id: rs587782892
MyVariant Identifiers: chr16:g.23641270del (hg19) chr16:g.23629949del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629949del , CM000678.2:g.23629949del GRCh38
NC_000016.9:g.23641270del , CM000678.1:g.23641270del GRCh37
NC_000016.8:g.23548771del NCBI36
NG_007406.1:g.16409del , LRG_308:g.16409del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2211del ENSP00000460666.3:p.Ala738ProfsTer28
ENST00000565038.2:c.212-674del ENSP00000459882.2:n.212-674del
ENST00000566069.6:c.2205del ENSP00000459237.2:p.Ala736ProfsTer28
ENST00000697377.2:c.2211del ENSP00000513286.2:p.Ala738ProfsTer28
ENST00000697379.2:c.2211del ENSP00000513287.2:p.Ala738ProfsTer28
ENST00000561514.2:c.1320del ENSP00000460666.2:p.Ala441ProfsTer28
ENST00000697374.1:c.1320del ENSP00000513284.1:p.Ala441ProfsTer28
ENST00000697375.1:n.3552del
ENST00000697376.1:c.1320del ENSP00000513285.1:p.Ala441ProfsTer28
ENST00000697377.1:c.1320del ENSP00000513286.1:p.Ala441ProfsTer28
ENST00000697378.1:n.2725del
ENST00000697379.1:c.1320del ENSP00000513287.1:p.Ala441ProfsTer28
ENST00000697380.1:n.1133del
ENST00000697381.1:n.900del
ENST00000697382.1:c.1320del ENSP00000513288.1:p.Ala441ProfsTer28
ENST00000697383.1:c.49-674del ENSP00000513289.1:n.49-674del
ENST00000697384.1:n.2359del
ENST00000261584.9:c.2205del MANE Select ENSP00000261584.4:p.Ala736ProfsTer28
ENST00000261584.8:c.2205del ENSP00000261584.4:p.Ala736ProfsTer28
ENST00000565038.1:c.87-674del
ENST00000568219.5:c.1320del ENSP00000454703.2:p.Ala441ProfsTer28
NM_024675.3:c.2205del , LRG_308t1:c.2205del NP_078951.2:p.Ala736ProfsTer28
XM_011545946.1:c.2211del XP_011544248.1:p.Ala738ProfsTer28
XM_011545947.1:c.2211del XP_011544249.1:p.Ala738ProfsTer28
XM_011545948.1:c.1320del XP_011544250.1:p.Ala441ProfsTer28
XR_950851.1:n.3001del
XM_011545946.2:c.2211del XP_011544248.1:p.Ala738ProfsTer28
XM_011545947.2:c.2211del XP_011544249.1:p.Ala738ProfsTer28
XM_011545948.2:c.1320del XP_011544250.1:p.Ala441ProfsTer28
XM_017023671.1:c.2211del XP_016879160.1:p.Ala738ProfsTer28
XM_017023672.2:c.2205del XP_016879161.1:p.Ala736ProfsTer28
XM_017023673.2:c.2205del XP_016879162.1:p.Ala736ProfsTer28
NM_024675.4:c.2205del MANE Select NP_078951.2:p.Ala736ProfsTer28
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