Canonical Allele Identifier: CA915949165
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 653326
ClinVar RCV Id: RCV000809079
dbSNP Id: rs1597079690
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621406_23621417dup , CM000678.2:g.23621406_23621417dup GRCh38
NC_000016.9:g.23632727_23632738dup , CM000678.1:g.23632727_23632738dup GRCh37
NC_000016.8:g.23540228_23540239dup NCBI36
NG_007406.1:g.24941_24952dup , LRG_308:g.24941_24952dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3064_3075dup ENSP00000460666.3:p.Gln1025_Glu1026insGlnGlyMetGln
ENST00000565038.2:c.*539_*550dup ENSP00000459882.2:n.*539_*550dup
ENST00000566069.6:c.3058_3069dup ENSP00000459237.2:p.Gln1023_Glu1024insGlnGlyMetGln
ENST00000697377.2:c.2902_2913dup ENSP00000513286.2:p.Gln971_Glu972insGlnGlyMetGln
ENST00000697379.2:c.3064_3075dup ENSP00000513287.2:p.Gln1025_Glu1026insGlnGlyMetGln
ENST00000561514.2:c.2173_2184dup ENSP00000460666.2:p.Gln728_Glu729insGlnGlyMetGln
ENST00000697374.1:c.2173_2184dup ENSP00000513284.1:p.Gln728_Glu729insGlnGlyMetGln
ENST00000697375.1:n.4405_4416dup
ENST00000697376.1:c.2173_2184dup ENSP00000513285.1:p.Gln728_Glu729insGlnGlyMetGln
ENST00000697377.1:c.2011_2022dup ENSP00000513286.1:p.Gln674_Glu675insGlnGlyMetGln
ENST00000697378.1:n.3578_3589dup
ENST00000697379.1:c.2173_2184dup ENSP00000513287.1:p.Gln728_Glu729insGlnGlyMetGln
ENST00000697380.1:n.2350_2361dup
ENST00000697381.1:n.1753_1764dup
ENST00000697382.1:c.2173_2184dup ENSP00000513288.1:p.Gln728_Glu729insGlnGlyMetGln
ENST00000697383.1:c.592_603dup ENSP00000513289.1:p.Gln201_Glu202insGlnGlyMetGln
ENST00000261584.9:c.3058_3069dup MANE Select ENSP00000261584.4:p.Gln1023_Glu1024insGlnGlyMetGln
ENST00000261584.8:c.3058_3069dup ENSP00000261584.4:p.Gln1023_Glu1024insGlnGlyMetGln
ENST00000568219.5:c.2173_2184dup ENSP00000454703.2:p.Gln728_Glu729insGlnGlyMetGln
NM_024675.3:c.3058_3069dup , LRG_308t1:c.3058_3069dup NP_078951.2:p.Gln1023_Glu1024insGlnGlyMetGln
XM_011545946.1:c.3064_3075dup XP_011544248.1:p.Gln1025_Glu1026insGlnGlyMetGln
XM_011545947.1:c.3064_3075dup XP_011544249.1:p.Gln1025_Glu1026insGlnGlyMetGln
XM_011545948.1:c.2173_2184dup XP_011544250.1:p.Gln728_Glu729insGlnGlyMetGln
XR_950851.1:n.3854_3865dup
XM_011545946.2:c.3064_3075dup XP_011544248.1:p.Gln1025_Glu1026insGlnGlyMetGln
XM_011545947.2:c.3064_3075dup XP_011544249.1:p.Gln1025_Glu1026insGlnGlyMetGln
XM_011545948.2:c.2173_2184dup XP_011544250.1:p.Gln728_Glu729insGlnGlyMetGln
XM_017023671.1:c.3064_3075dup XP_016879160.1:p.Gln1025_Glu1026insGlnGlyMetGln
XM_017023672.2:c.3058_3069dup XP_016879161.1:p.Gln1023_Glu1024insGlnGlyMetGln
XM_017023673.2:c.3058_3069dup XP_016879162.1:p.Gln1023_Glu1024insGlnGlyMetGln
NM_024675.4:c.3058_3069dup MANE Select NP_078951.2:p.Gln1023_Glu1024insGlnGlyMetGln
Search 100 bp 5'
Search 100 bp 3'