Canonical Allele Identifier: CA269533
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126651
ClinVar RCV Id: RCV001030304
dbSNP Id: rs180177113
MyVariant Identifiers: chr16:g.23641081_23641082insAG (hg19) chr16:g.23629760_23629761insAG (hg38)
PubMed: PMID:17200671 PMID:19264984
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629760_23629761insAG , CM000678.2:g.23629760_23629761insAG GRCh38
NC_000016.9:g.23641081_23641082insAG , CM000678.1:g.23641081_23641082insAG GRCh37
NC_000016.8:g.23548582_23548583insAG NCBI36
NG_007406.1:g.16597_16598insCT , LRG_308:g.16597_16598insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2399_2400insCT ENSP00000460666.3:p.Thr801LeufsTer?
ENST00000565038.2:c.212-486_212-485insCT ENSP00000459882.2:n.212-486_212-485insCT
ENST00000566069.6:c.2393_2394insCT ENSP00000459237.2:p.Thr799LeufsTer?
ENST00000697377.2:c.2399_2400insCT ENSP00000513286.2:p.Thr801LeufsTer?
ENST00000697379.2:c.2399_2400insCT ENSP00000513287.2:p.Thr801LeufsTer?
ENST00000561514.2:c.1508_1509insCT ENSP00000460666.2:p.Thr504LeufsTer?
ENST00000697374.1:c.1508_1509insCT ENSP00000513284.1:p.Thr504LeufsTer?
ENST00000697375.1:n.3740_3741insCT
ENST00000697376.1:c.1508_1509insCT ENSP00000513285.1:p.Thr504LeufsTer?
ENST00000697377.1:c.1508_1509insCT ENSP00000513286.1:p.Thr504LeufsTer?
ENST00000697378.1:n.2913_2914insCT
ENST00000697379.1:c.1508_1509insCT ENSP00000513287.1:p.Thr504LeufsTer?
ENST00000697380.1:n.1321_1322insCT
ENST00000697381.1:n.1088_1089insCT
ENST00000697382.1:c.1508_1509insCT ENSP00000513288.1:p.Thr504LeufsTer?
ENST00000697383.1:c.49-486_49-485insCT ENSP00000513289.1:n.49-486_49-485insCT
ENST00000697384.1:n.2547_2548insCT
ENST00000261584.9:c.2393_2394insCT MANE Select ENSP00000261584.4:p.Thr799LeufsTer?
ENST00000261584.8:c.2393_2394insCT ENSP00000261584.4:p.Thr799LeufsTer?
ENST00000565038.1:c.87-486_87-485insCT
ENST00000568219.5:c.1508_1509insCT ENSP00000454703.2:p.Thr504LeufsTer?
NM_024675.3:c.2393_2394insCT , LRG_308t1:c.2393_2394insCT NP_078951.2:p.Thr799LeufsTer?
XM_011545946.1:c.2399_2400insCT XP_011544248.1:p.Thr801LeufsTer?
XM_011545947.1:c.2399_2400insCT XP_011544249.1:p.Thr801LeufsTer?
XM_011545948.1:c.1508_1509insCT XP_011544250.1:p.Thr504LeufsTer?
XR_950851.1:n.3189_3190insCT
XM_011545946.2:c.2399_2400insCT XP_011544248.1:p.Thr801LeufsTer?
XM_011545947.2:c.2399_2400insCT XP_011544249.1:p.Thr801LeufsTer?
XM_011545948.2:c.1508_1509insCT XP_011544250.1:p.Thr504LeufsTer?
XM_017023671.1:c.2399_2400insCT XP_016879160.1:p.Thr801LeufsTer?
XM_017023672.2:c.2393_2394insCT XP_016879161.1:p.Thr799LeufsTer?
XM_017023673.2:c.2393_2394insCT XP_016879162.1:p.Thr799LeufsTer?
NM_024675.4:c.2393_2394insCT MANE Select NP_078951.2:p.Thr799LeufsTer?
Search 100 bp 5'
Search 100 bp 3'