Canonical Allele Identifier: CA334224
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188172
ClinVar RCV Id: RCV000168075
dbSNP Id: rs786204122
MyVariant Identifiers: chr16:g.23634363_23634366del (hg19) chr16:g.23623042_23623045del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623043_23623046del , CM000678.2:g.23623043_23623046del GRCh38
NC_000016.9:g.23634364_23634367del , CM000678.1:g.23634364_23634367del GRCh37
NC_000016.8:g.23541865_23541868del NCBI36
NG_007406.1:g.23313_23316del , LRG_308:g.23313_23316del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2926_2929del ENSP00000460666.3:p.Lys976GlyfsTer3
ENST00000565038.2:c.*401_*404del ENSP00000459882.2:n.*401_*404del
ENST00000566069.6:c.2920_2923del ENSP00000459237.2:p.Lys974GlyfsTer3
ENST00000697377.2:c.2764_2767del ENSP00000513286.2:p.Lys922GlyfsTer3
ENST00000697379.2:c.2926_2929del ENSP00000513287.2:p.Lys976GlyfsTer3
ENST00000561514.2:c.2035_2038del ENSP00000460666.2:p.Lys679GlyfsTer3
ENST00000697374.1:c.2035_2038del ENSP00000513284.1:p.Lys679GlyfsTer3
ENST00000697375.1:n.4267_4270del
ENST00000697376.1:c.2035_2038del ENSP00000513285.1:p.Lys679GlyfsTer3
ENST00000697377.1:c.1873_1876del ENSP00000513286.1:p.Lys625GlyfsTer3
ENST00000697378.1:n.3440_3443del
ENST00000697379.1:c.2035_2038del ENSP00000513287.1:p.Lys679GlyfsTer3
ENST00000697380.1:n.2212_2215del
ENST00000697381.1:n.1615_1618del
ENST00000697382.1:c.2035_2038del ENSP00000513288.1:p.Lys679GlyfsTer3
ENST00000697383.1:c.454_457del ENSP00000513289.1:p.Lys152GlyfsTer3
ENST00000261584.9:c.2920_2923del MANE Select ENSP00000261584.4:p.Lys974GlyfsTer3
ENST00000261584.8:c.2920_2923del ENSP00000261584.4:p.Lys974GlyfsTer3
ENST00000568219.5:c.2035_2038del ENSP00000454703.2:p.Lys679GlyfsTer3
NM_024675.3:c.2920_2923del , LRG_308t1:c.2920_2923del NP_078951.2:p.Lys974GlyfsTer3
XM_011545946.1:c.2926_2929del XP_011544248.1:p.Lys976GlyfsTer3
XM_011545947.1:c.2926_2929del XP_011544249.1:p.Lys976GlyfsTer3
XM_011545948.1:c.2035_2038del XP_011544250.1:p.Lys679GlyfsTer3
XR_950851.1:n.3716_3719del
XM_011545946.2:c.2926_2929del XP_011544248.1:p.Lys976GlyfsTer3
XM_011545947.2:c.2926_2929del XP_011544249.1:p.Lys976GlyfsTer3
XM_011545948.2:c.2035_2038del XP_011544250.1:p.Lys679GlyfsTer3
XM_017023671.1:c.2926_2929del XP_016879160.1:p.Lys976GlyfsTer3
XM_017023672.2:c.2920_2923del XP_016879161.1:p.Lys974GlyfsTer3
XM_017023673.2:c.2920_2923del XP_016879162.1:p.Lys974GlyfsTer3
NM_024675.4:c.2920_2923del MANE Select NP_078951.2:p.Lys974GlyfsTer3
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