Canonical Allele Identifier: CA2213409730
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1008932
ClinVar RCV Id: RCV001306347
dbSNP Id: rs1966768242

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621383_23621384insAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTCATAA , CM000678.2:g.23621383_23621384insAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTCATAA GRCh38
NC_000016.9:g.23632704_23632705insAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTCATAA , CM000678.1:g.23632704_23632705insAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTCATAA GRCh37
NC_000016.8:g.23540205_23540206insAAAAAAGTAGGAAGGAATGATTTACAGTTATCCTGTTCATAA NCBI36
NG_007406.1:g.24983_24984insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA , LRG_308:g.24983_24984insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000460666.3:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPh...
ENST00000565038.2:c.*581_*582insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000459882.2:n.*581_*582insGGATAACTGTAAATCATTCCTTCCTACTT...
ENST00000566069.6:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000459237.2:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPh...
ENST00000697377.2:c.2944_2945insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513286.2:p.Asn981_Asn982insArgIleThrValAsnHisSerPheL...
ENST00000697379.2:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513287.2:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPh...
ENST00000561514.2:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000460666.2:p.Asn738_Asn739insArgIleThrValAsnHisSerPheL...
ENST00000697374.1:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513284.1:p.Asn738_Asn739insArgIleThrValAsnHisSerPheL...
ENST00000697375.1:n.4447_4448insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA
ENST00000697376.1:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513285.1:p.Asn738_Asn739insArgIleThrValAsnHisSerPheL...
ENST00000697377.1:c.2053_2054insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513286.1:p.Asn684_Asn685insArgIleThrValAsnHisSerPheL...
ENST00000697378.1:n.3620_3621insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA
ENST00000697379.1:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513287.1:p.Asn738_Asn739insArgIleThrValAsnHisSerPheL...
ENST00000697380.1:n.2392_2393insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA
ENST00000697381.1:n.1795_1796insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA
ENST00000697382.1:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513288.1:p.Asn738_Asn739insArgIleThrValAsnHisSerPheL...
ENST00000697383.1:c.634_635insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000513289.1:p.Asn211_Asn212insArgIleThrValAsnHisSerPheL...
ENST00000261584.9:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA MANE Select ENSP00000261584.4:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPh...
ENST00000261584.8:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000261584.4:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPh...
ENST00000566069.5:c.15_16insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA
ENST00000568219.5:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA ENSP00000454703.2:p.Asn738_Asn739insArgIleThrValAsnHisSerPheL...
NM_024675.3:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA , LRG_308t1:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA NP_078951.2:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLeuLe...
XM_011545946.1:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_011544248.1:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPheLe...
XM_011545947.1:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_011544249.1:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPheLe...
XM_011545948.1:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_011544250.1:p.Asn738_Asn739insArgIleThrValAsnHisSerPheLeuL...
XR_950851.1:n.3896_3897insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA
XM_011545946.2:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_011544248.1:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPheLe...
XM_011545947.2:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_011544249.1:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPheLe...
XM_011545948.2:c.2215_2216insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_011544250.1:p.Asn738_Asn739insArgIleThrValAsnHisSerPheLeuL...
XM_017023671.1:c.3106_3107insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_016879160.1:p.Asn1035_Asn1036insArgIleThrValAsnHisSerPheLe...
XM_017023672.2:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_016879161.1:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLe...
XM_017023673.2:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA XP_016879162.1:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLe...
NM_024675.4:c.3100_3101insGGATAACTGTAAATCATTCCTTCCTACTTTTTTTTATGAACA MANE Select NP_078951.2:p.Asn1033_Asn1034insArgIleThrValAsnHisSerPheLeuLe...