Canonical Allele Identifier: CA2580091229
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1732531
ClinVar RCV Id: RCV002454831

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603465_23603473dup , CM000678.2:g.23603465_23603473dup GRCh38
NC_000016.9:g.23614786_23614794dup , CM000678.1:g.23614786_23614794dup GRCh37
NC_000016.8:g.23522287_23522295dup NCBI36
NG_007406.1:g.42886_42894dup , LRG_308:g.42886_42894dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3554_3562dup ENSP00000460666.3:p.Tyr1187_Ser1188insTyrHisTyr
ENST00000565038.2:c.*1033_*1041dup ENSP00000459882.2:n.*1033_*1041dup
ENST00000566069.6:c.*183_*191dup ENSP00000459237.2:n.*183_*191dup
ENST00000697377.2:c.3392_3400dup ENSP00000513286.2:p.Tyr1133_Ser1134insTyrHisTyr
ENST00000697379.2:c.3554_3562dup ENSP00000513287.2:p.Tyr1187_Ser1188insTyrHisTyr
ENST00000561514.2:c.2663_2671dup ENSP00000460666.2:p.Tyr890_Ser891insTyrHisTyr
ENST00000697374.1:c.2663_2671dup ENSP00000513284.1:p.Tyr890_Ser891insTyrHisTyr
ENST00000697375.1:n.4895_4903dup
ENST00000697376.1:c.*183_*191dup ENSP00000513285.1:n.*183_*191dup
ENST00000697377.1:c.2501_2509dup ENSP00000513286.1:p.Tyr836_Ser837insTyrHisTyr
ENST00000697378.1:n.4068_4076dup
ENST00000697379.1:c.2663_2671dup ENSP00000513287.1:p.Tyr890_Ser891insTyrHisTyr
ENST00000697380.1:n.2752_2760dup
ENST00000697381.1:n.2243_2251dup
ENST00000697382.1:c.*325_*333dup ENSP00000513288.1:n.*325_*333dup
ENST00000697383.1:c.1082_1090dup ENSP00000513289.1:p.Tyr363_Ser364insTyrHisTyr
ENST00000261584.9:c.3548_3556dup MANE Select ENSP00000261584.4:p.Tyr1185_Ser1186insTyrHisTyr
ENST00000261584.8:c.3548_3556dup ENSP00000261584.4:p.Tyr1185_Ser1186insTyrHisTyr
ENST00000566069.5:c.314_322dup
ENST00000568219.5:c.2663_2671dup ENSP00000454703.2:p.Tyr890_Ser891insTyrHisTyr
NM_024675.3:c.3548_3556dup , LRG_308t1:c.3548_3556dup NP_078951.2:p.Tyr1185_Ser1186insTyrHisTyr
XM_011545946.1:c.3554_3562dup XP_011544248.1:p.Tyr1187_Ser1188insTyrHisTyr
XM_011545947.1:c.*183_*191dup XP_011544249.1:n.*183_*191dup
XM_011545948.1:c.2663_2671dup XP_011544250.1:p.Tyr890_Ser891insTyrHisTyr
XR_950851.1:n.4256_4264dup
XM_011545946.2:c.3554_3562dup XP_011544248.1:p.Tyr1187_Ser1188insTyrHisTyr
XM_011545947.2:c.*183_*191dup XP_011544249.1:n.*183_*191dup
XM_011545948.2:c.2663_2671dup XP_011544250.1:p.Tyr890_Ser891insTyrHisTyr
XM_017023671.1:c.3317_3325dup XP_016879160.1:p.Tyr1108_Ser1109insTyrHisTyr
XM_017023672.2:c.3311_3319dup XP_016879161.1:p.Tyr1106_Ser1107insTyrHisTyr
XM_017023673.2:c.*183_*191dup XP_016879162.1:n.*183_*191dup
NM_024675.4:c.3548_3556dup MANE Select NP_078951.2:p.Tyr1185_Ser1186insTyrHisTyr