Canonical Allele Identifier: CA923726276
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603476_23603477del , CM000678.2:g.23603476_23603477del GRCh38
NC_000016.9:g.23614797_23614798del , CM000678.1:g.23614797_23614798del GRCh37
NC_000016.8:g.23522298_23522299del NCBI36
NG_007406.1:g.42882_42883del , LRG_308:g.42882_42883del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3550_3551del ENSP00000460666.3:p.Val1184IlefsTer7
ENST00000565038.2:c.*1029_*1030del ENSP00000459882.2:n.*1029_*1030del
ENST00000566069.6:c.*179_*180del ENSP00000459237.2:n.*179_*180del
ENST00000697377.2:c.3388_3389del ENSP00000513286.2:p.Val1130IlefsTer7
ENST00000697379.2:c.3550_3551del ENSP00000513287.2:p.Val1184IlefsTer7
ENST00000561514.2:c.2659_2660del ENSP00000460666.2:p.Val887IlefsTer7
ENST00000697374.1:c.2659_2660del ENSP00000513284.1:p.Val887IlefsTer7
ENST00000697375.1:n.4891_4892del
ENST00000697376.1:c.*179_*180del ENSP00000513285.1:n.*179_*180del
ENST00000697377.1:c.2497_2498del ENSP00000513286.1:p.Val833IlefsTer7
ENST00000697378.1:n.4064_4065del
ENST00000697379.1:c.2659_2660del ENSP00000513287.1:p.Val887IlefsTer7
ENST00000697380.1:n.2748_2749del
ENST00000697381.1:n.2239_2240del
ENST00000697382.1:c.*321_*322del ENSP00000513288.1:n.*321_*322del
ENST00000697383.1:c.1078_1079del ENSP00000513289.1:p.Val360IlefsTer7
ENST00000261584.9:c.3544_3545del MANE Select ENSP00000261584.4:p.Val1182IlefsTer7
ENST00000261584.8:c.3544_3545del ENSP00000261584.4:p.Val1182IlefsTer7
ENST00000566069.5:c.310_311del
ENST00000568219.5:c.2659_2660del ENSP00000454703.2:p.Val887IlefsTer7
NM_024675.3:c.3544_3545del , LRG_308t1:c.3544_3545del NP_078951.2:p.Val1182IlefsTer7
XM_011545946.1:c.3550_3551del XP_011544248.1:p.Val1184IlefsTer7
XM_011545947.1:c.*179_*180del XP_011544249.1:n.*179_*180del
XM_011545948.1:c.2659_2660del XP_011544250.1:p.Val887IlefsTer7
XR_950851.1:n.4252_4253del
XM_011545946.2:c.3550_3551del XP_011544248.1:p.Val1184IlefsTer7
XM_011545947.2:c.*179_*180del XP_011544249.1:n.*179_*180del
XM_011545948.2:c.2659_2660del XP_011544250.1:p.Val887IlefsTer7
XM_017023671.1:c.3313_3314del XP_016879160.1:p.Val1105IlefsTer7
XM_017023672.2:c.3307_3308del XP_016879161.1:p.Val1103IlefsTer7
XM_017023673.2:c.*179_*180del XP_016879162.1:n.*179_*180del
NM_024675.4:c.3544_3545del MANE Select NP_078951.2:p.Val1182IlefsTer7