Canonical Allele Identifier: CA193802
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs180177099
gnomAD v2: 16-23646809-TTC-T
gnomAD v4: 16-23635488-TTC-T
MyVariant Identifiers: chr16:g.23646810_23646811del (hg19) chr16:g.23635489_23635490del (hg38)
PubMed: PMID:17200668 PMID:18302019 PMID:19264984 PMID:19763884 PMID:21165770 PMID:23935381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635492_23635493del , CM000678.2:g.23635492_23635493del GRCh38
NC_000016.9:g.23646813_23646814del , CM000678.1:g.23646813_23646814del GRCh37
NC_000016.8:g.23554314_23554315del NCBI36
NG_007406.1:g.10868_10869del , LRG_308:g.10868_10869del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1062_1063del ENSP00000460666.3:p.Lys355IlefsTer7
ENST00000565038.2:c.211+2360_211+2361del ENSP00000459882.2:n.211+2360_211+2361del
ENST00000566069.6:c.1056_1057del ENSP00000459237.2:p.Lys353IlefsTer7
ENST00000697377.2:c.1062_1063del ENSP00000513286.2:p.Lys355IlefsTer7
ENST00000697379.2:c.1062_1063del ENSP00000513287.2:p.Lys355IlefsTer7
ENST00000561514.2:c.171_172del ENSP00000460666.2:p.Lys58IlefsTer7
ENST00000697374.1:c.171_172del ENSP00000513284.1:p.Lys58IlefsTer7
ENST00000697375.1:n.2403_2404del
ENST00000697376.1:c.171_172del ENSP00000513285.1:p.Lys58IlefsTer7
ENST00000697377.1:c.171_172del ENSP00000513286.1:p.Lys58IlefsTer7
ENST00000697378.1:n.1576_1577del
ENST00000697379.1:c.171_172del ENSP00000513287.1:p.Lys58IlefsTer7
ENST00000697382.1:c.171_172del ENSP00000513288.1:p.Lys58IlefsTer7
ENST00000697383.1:c.48+5620_48+5621del ENSP00000513289.1:n.48+5620_48+5621del
ENST00000697384.1:n.1210_1211del
ENST00000261584.9:c.1056_1057del MANE Select ENSP00000261584.4:p.Lys353IlefsTer7
ENST00000261584.8:c.1056_1057del ENSP00000261584.4:p.Lys353IlefsTer7
ENST00000565038.1:c.86+2360_86+2361del
ENST00000568219.5:c.171_172del ENSP00000454703.2:p.Lys58IlefsTer7
NM_024675.3:c.1056_1057del , LRG_308t1:c.1056_1057del NP_078951.2:p.Lys353IlefsTer7
XM_011545946.1:c.1062_1063del XP_011544248.1:p.Lys355IlefsTer7
XM_011545947.1:c.1062_1063del XP_011544249.1:p.Lys355IlefsTer7
XM_011545948.1:c.171_172del XP_011544250.1:p.Lys58IlefsTer7
XR_950851.1:n.1852_1853del
XM_011545946.2:c.1062_1063del XP_011544248.1:p.Lys355IlefsTer7
XM_011545947.2:c.1062_1063del XP_011544249.1:p.Lys355IlefsTer7
XM_011545948.2:c.171_172del XP_011544250.1:p.Lys58IlefsTer7
XM_017023671.1:c.1062_1063del XP_016879160.1:p.Lys355IlefsTer7
XM_017023672.2:c.1056_1057del XP_016879161.1:p.Lys353IlefsTer7
XM_017023673.2:c.1056_1057del XP_016879162.1:p.Lys353IlefsTer7
NM_024675.4:c.1056_1057del MANE Select NP_078951.2:p.Lys353IlefsTer7
Search 100 bp 5'
Search 100 bp 3'