Canonical Allele Identifier: CA2695222908
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621400_23621401del , CM000678.2:g.23621400_23621401del GRCh38
NC_000016.9:g.23632721_23632722del , CM000678.1:g.23632721_23632722del GRCh37
NC_000016.8:g.23540222_23540223del NCBI36
NG_007406.1:g.24959_24960del , LRG_308:g.24959_24960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3082_3083del ENSP00000460666.3:p.Leu1028AlafsTer26
ENST00000565038.2:c.*557_*558del ENSP00000459882.2:n.*557_*558del
ENST00000566069.6:c.3076_3077del ENSP00000459237.2:p.Leu1026AlafsTer26
ENST00000697377.2:c.2920_2921del ENSP00000513286.2:p.Leu974AlafsTer26
ENST00000697379.2:c.3082_3083del ENSP00000513287.2:p.Leu1028AlafsTer26
ENST00000561514.2:c.2191_2192del ENSP00000460666.2:p.Leu731AlafsTer26
ENST00000697374.1:c.2191_2192del ENSP00000513284.1:p.Leu731AlafsTer26
ENST00000697375.1:n.4423_4424del
ENST00000697376.1:c.2191_2192del ENSP00000513285.1:p.Leu731AlafsTer26
ENST00000697377.1:c.2029_2030del ENSP00000513286.1:p.Leu677AlafsTer26
ENST00000697378.1:n.3596_3597del
ENST00000697379.1:c.2191_2192del ENSP00000513287.1:p.Leu731AlafsTer26
ENST00000697380.1:n.2368_2369del
ENST00000697381.1:n.1771_1772del
ENST00000697382.1:c.2191_2192del ENSP00000513288.1:p.Leu731AlafsTer?
ENST00000697383.1:c.610_611del ENSP00000513289.1:p.Leu204AlafsTer26
ENST00000261584.9:c.3076_3077del MANE Select ENSP00000261584.4:p.Leu1026AlafsTer26
ENST00000261584.8:c.3076_3077del ENSP00000261584.4:p.Leu1026AlafsTer26
ENST00000568219.5:c.2191_2192del ENSP00000454703.2:p.Leu731AlafsTer26
NM_024675.3:c.3076_3077del , LRG_308t1:c.3076_3077del NP_078951.2:p.Leu1026AlafsTer26
XM_011545946.1:c.3082_3083del XP_011544248.1:p.Leu1028AlafsTer26
XM_011545947.1:c.3082_3083del XP_011544249.1:p.Leu1028AlafsTer26
XM_011545948.1:c.2191_2192del XP_011544250.1:p.Leu731AlafsTer26
XR_950851.1:n.3872_3873del
XM_011545946.2:c.3082_3083del XP_011544248.1:p.Leu1028AlafsTer26
XM_011545947.2:c.3082_3083del XP_011544249.1:p.Leu1028AlafsTer26
XM_011545948.2:c.2191_2192del XP_011544250.1:p.Leu731AlafsTer26
XM_017023671.1:c.3082_3083del XP_016879160.1:p.Leu1028AlafsTer17
XM_017023672.2:c.3076_3077del XP_016879161.1:p.Leu1026AlafsTer17
XM_017023673.2:c.3076_3077del XP_016879162.1:p.Leu1026AlafsTer26
NM_024675.4:c.3076_3077del MANE Select NP_078951.2:p.Leu1026AlafsTer26