Canonical Allele Identifier: CA165692
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141527
ClinVar RCV Id: RCV000130093 RCV000133471 RCV000205410 RCV001781469
dbSNP Id: rs587776410
gnomAD v4: 16-23635504-GTTCTT-G
MyVariant Identifiers: chr16:g.23646826_23646830del (hg19) chr16:g.23635505_23635509del (hg38)
PubMed: PMID:23977390 PMID:24556926 PMID:24763289 PMID:25099575
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635507_23635511del , CM000678.2:g.23635507_23635511del GRCh38
NC_000016.9:g.23646828_23646832del , CM000678.1:g.23646828_23646832del GRCh37
NC_000016.8:g.23554329_23554333del NCBI36
NG_007406.1:g.10849_10853del , LRG_308:g.10849_10853del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1043_1047del ENSP00000460666.3:p.Lys348ThrfsTer13
ENST00000565038.2:c.211+2341_211+2345del ENSP00000459882.2:n.211+2341_211+2345del
ENST00000566069.6:c.1037_1041del ENSP00000459237.2:p.Lys346ThrfsTer13
ENST00000697377.2:c.1043_1047del ENSP00000513286.2:p.Lys348ThrfsTer13
ENST00000697379.2:c.1043_1047del ENSP00000513287.2:p.Lys348ThrfsTer13
ENST00000561514.2:c.152_156del ENSP00000460666.2:p.Lys51ThrfsTer13
ENST00000697374.1:c.152_156del ENSP00000513284.1:p.Lys51ThrfsTer13
ENST00000697375.1:n.2384_2388del
ENST00000697376.1:c.152_156del ENSP00000513285.1:p.Lys51ThrfsTer13
ENST00000697377.1:c.152_156del ENSP00000513286.1:p.Lys51ThrfsTer13
ENST00000697378.1:n.1557_1561del
ENST00000697379.1:c.152_156del ENSP00000513287.1:p.Lys51ThrfsTer13
ENST00000697382.1:c.152_156del ENSP00000513288.1:p.Lys51ThrfsTer13
ENST00000697383.1:c.48+5601_48+5605del ENSP00000513289.1:n.48+5601_48+5605del
ENST00000697384.1:n.1191_1195del
ENST00000261584.9:c.1037_1041del MANE Select ENSP00000261584.4:p.Lys346ThrfsTer13
ENST00000261584.8:c.1037_1041del ENSP00000261584.4:p.Lys346ThrfsTer13
ENST00000565038.1:c.86+2341_86+2345del
ENST00000568219.5:c.152_156del ENSP00000454703.2:p.Lys51ThrfsTer13
NM_024675.3:c.1037_1041del , LRG_308t1:c.1037_1041del NP_078951.2:p.Lys346ThrfsTer13
XM_011545946.1:c.1043_1047del XP_011544248.1:p.Lys348ThrfsTer13
XM_011545947.1:c.1043_1047del XP_011544249.1:p.Lys348ThrfsTer13
XM_011545948.1:c.152_156del XP_011544250.1:p.Lys51ThrfsTer13
XR_950851.1:n.1833_1837del
XM_011545946.2:c.1043_1047del XP_011544248.1:p.Lys348ThrfsTer13
XM_011545947.2:c.1043_1047del XP_011544249.1:p.Lys348ThrfsTer13
XM_011545948.2:c.152_156del XP_011544250.1:p.Lys51ThrfsTer13
XM_017023671.1:c.1043_1047del XP_016879160.1:p.Lys348ThrfsTer13
XM_017023672.2:c.1037_1041del XP_016879161.1:p.Lys346ThrfsTer13
XM_017023673.2:c.1037_1041del XP_016879162.1:p.Lys346ThrfsTer13
NM_024675.4:c.1037_1041del MANE Select NP_078951.2:p.Lys346ThrfsTer13
Search 100 bp 5'
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