Canonical Allele Identifier: CA2695197584
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674077
ClinVar RCV Id: RCV003452273
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621429_23621444del , CM000678.2:g.23621429_23621444del GRCh38
NC_000016.9:g.23632750_23632765del , CM000678.1:g.23632750_23632765del GRCh37
NC_000016.8:g.23540251_23540266del NCBI36
NG_007406.1:g.24914_24929del , LRG_308:g.24914_24929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3037_3052del ENSP00000460666.3:p.Glu1013LeufsTer17
ENST00000565038.2:c.*512_*527del ENSP00000459882.2:n.*512_*527del
ENST00000566069.6:c.3031_3046del ENSP00000459237.2:p.Glu1011LeufsTer17
ENST00000697377.2:c.2875_2890del ENSP00000513286.2:p.Glu959LeufsTer17
ENST00000697379.2:c.3037_3052del ENSP00000513287.2:p.Glu1013LeufsTer17
ENST00000561514.2:c.2146_2161del ENSP00000460666.2:p.Glu716LeufsTer17
ENST00000697374.1:c.2146_2161del ENSP00000513284.1:p.Glu716LeufsTer17
ENST00000697375.1:n.4378_4393del
ENST00000697376.1:c.2146_2161del ENSP00000513285.1:p.Glu716LeufsTer17
ENST00000697377.1:c.1984_1999del ENSP00000513286.1:p.Glu662LeufsTer17
ENST00000697378.1:n.3551_3566del
ENST00000697379.1:c.2146_2161del ENSP00000513287.1:p.Glu716LeufsTer17
ENST00000697380.1:n.2323_2338del
ENST00000697381.1:n.1726_1741del
ENST00000697382.1:c.2146_2161del ENSP00000513288.1:p.Glu716LeufsTer17
ENST00000697383.1:c.565_580del ENSP00000513289.1:p.Glu189LeufsTer17
ENST00000261584.9:c.3031_3046del MANE Select ENSP00000261584.4:p.Glu1011LeufsTer17
ENST00000261584.8:c.3031_3046del ENSP00000261584.4:p.Glu1011LeufsTer17
ENST00000568219.5:c.2146_2161del ENSP00000454703.2:p.Glu716LeufsTer17
NM_024675.3:c.3031_3046del , LRG_308t1:c.3031_3046del NP_078951.2:p.Glu1011LeufsTer17
XM_011545946.1:c.3037_3052del XP_011544248.1:p.Glu1013LeufsTer17
XM_011545947.1:c.3037_3052del XP_011544249.1:p.Glu1013LeufsTer17
XM_011545948.1:c.2146_2161del XP_011544250.1:p.Glu716LeufsTer17
XR_950851.1:n.3827_3842del
XM_011545946.2:c.3037_3052del XP_011544248.1:p.Glu1013LeufsTer17
XM_011545947.2:c.3037_3052del XP_011544249.1:p.Glu1013LeufsTer17
XM_011545948.2:c.2146_2161del XP_011544250.1:p.Glu716LeufsTer17
XM_017023671.1:c.3037_3052del XP_016879160.1:p.Glu1013LeufsTer17
XM_017023672.2:c.3031_3046del XP_016879161.1:p.Glu1011LeufsTer17
XM_017023673.2:c.3031_3046del XP_016879162.1:p.Glu1011LeufsTer17
NM_024675.4:c.3031_3046del MANE Select NP_078951.2:p.Glu1011LeufsTer17
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