Canonical Allele Identifier: CA16609601
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 402287
ClinVar RCV Id: RCV000454229
dbSNP Id: rs1060499813
MyVariant Identifiers: chr16:g.23646817_23646820del (hg19) chr16:g.23635496_23635499del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635498_23635501del , CM000678.2:g.23635498_23635501del GRCh38
NC_000016.9:g.23646819_23646822del , CM000678.1:g.23646819_23646822del GRCh37
NC_000016.8:g.23554320_23554323del NCBI36
NG_007406.1:g.10859_10862del , LRG_308:g.10859_10862del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1053_1056del ENSP00000460666.3:p.Asn351LysfsTer6
ENST00000565038.2:c.211+2351_211+2354del ENSP00000459882.2:n.211+2351_211+2354del
ENST00000566069.6:c.1047_1050del ENSP00000459237.2:p.Asn349LysfsTer6
ENST00000697377.2:c.1053_1056del ENSP00000513286.2:p.Asn351LysfsTer6
ENST00000697379.2:c.1053_1056del ENSP00000513287.2:p.Asn351LysfsTer6
ENST00000561514.2:c.162_165del ENSP00000460666.2:p.Asn54LysfsTer6
ENST00000697374.1:c.162_165del ENSP00000513284.1:p.Asn54LysfsTer6
ENST00000697375.1:n.2394_2397del
ENST00000697376.1:c.162_165del ENSP00000513285.1:p.Asn54LysfsTer6
ENST00000697377.1:c.162_165del ENSP00000513286.1:p.Asn54LysfsTer6
ENST00000697378.1:n.1567_1570del
ENST00000697379.1:c.162_165del ENSP00000513287.1:p.Asn54LysfsTer6
ENST00000697382.1:c.162_165del ENSP00000513288.1:p.Asn54LysfsTer6
ENST00000697383.1:c.48+5611_48+5614del ENSP00000513289.1:n.48+5611_48+5614del
ENST00000697384.1:n.1201_1204del
ENST00000261584.9:c.1047_1050del MANE Select ENSP00000261584.4:p.Asn349LysfsTer6
ENST00000261584.8:c.1047_1050del ENSP00000261584.4:p.Asn349LysfsTer6
ENST00000565038.1:c.86+2351_86+2354del
ENST00000568219.5:c.162_165del ENSP00000454703.2:p.Asn54LysfsTer6
NM_024675.3:c.1047_1050del , LRG_308t1:c.1047_1050del NP_078951.2:p.Asn349LysfsTer6
XM_011545946.1:c.1053_1056del XP_011544248.1:p.Asn351LysfsTer6
XM_011545947.1:c.1053_1056del XP_011544249.1:p.Asn351LysfsTer6
XM_011545948.1:c.162_165del XP_011544250.1:p.Asn54LysfsTer6
XR_950851.1:n.1843_1846del
XM_011545946.2:c.1053_1056del XP_011544248.1:p.Asn351LysfsTer6
XM_011545947.2:c.1053_1056del XP_011544249.1:p.Asn351LysfsTer6
XM_011545948.2:c.162_165del XP_011544250.1:p.Asn54LysfsTer6
XM_017023671.1:c.1053_1056del XP_016879160.1:p.Asn351LysfsTer6
XM_017023672.2:c.1047_1050del XP_016879161.1:p.Asn349LysfsTer6
XM_017023673.2:c.1047_1050del XP_016879162.1:p.Asn349LysfsTer6
NM_024675.4:c.1047_1050del MANE Select NP_078951.2:p.Asn349LysfsTer6
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