Canonical Allele Identifier: CA2695222997
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641154_23641155del , CM000678.2:g.23641154_23641155del GRCh38
NC_000016.9:g.23652475_23652476del , CM000678.1:g.23652475_23652476del GRCh37
NC_000016.8:g.23559976_23559977del NCBI36
NG_007406.1:g.5203_5204del , LRG_308:g.5203_5204del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.-850_-849del ENSP00000460666.3:n.-850_-849del
ENST00000565038.2:c.3_4del ENSP00000459882.2:p.Met1IlefsTer11
ENST00000566069.6:c.3_4del ENSP00000459237.2:p.Met1IlefsTer11
ENST00000697377.2:c.-237_-236del ENSP00000513286.2:n.-237_-236del
ENST00000697379.2:c.-143_-142del ENSP00000513287.2:n.-143_-142del
ENST00000561514.2:c.-1741_-1740del ENSP00000460666.2:n.-1741_-1740del
ENST00000697374.1:c.-1332_-1331del ENSP00000513284.1:n.-1332_-1331del
ENST00000697376.1:c.-1053_-1052del ENSP00000513285.1:n.-1053_-1052del
ENST00000697377.1:c.-1128_-1127del ENSP00000513286.1:n.-1128_-1127del
ENST00000697379.1:c.-1034_-1033del ENSP00000513287.1:n.-1034_-1033del
ENST00000697382.1:c.-1792_-1791del ENSP00000513288.1:n.-1792_-1791del
ENST00000697383.1:c.3_4del ENSP00000513289.1:p.Met1IlefsTer11
ENST00000697384.1:n.157_158del
ENST00000261584.9:c.3_4del MANE Select ENSP00000261584.4:p.Met1IlefsTer11
ENST00000261584.8:c.3_4del ENSP00000261584.4:p.Met1IlefsTer11
ENST00000567003.1:n.147_148del
ENST00000568219.5:c.-866_-865del ENSP00000454703.2:n.-866_-865del
NM_024675.3:c.3_4del , LRG_308t1:c.3_4del NP_078951.2:p.Met1IlefsTer11
XM_011545948.1:c.-1017_-1016del XP_011544250.1:n.-1017_-1016del
XM_011545946.2:c.-850_-849del XP_011544248.1:n.-850_-849del
XM_011545947.2:c.-850_-849del XP_011544249.1:n.-850_-849del
XM_011545948.2:c.-1017_-1016del XP_011544250.1:n.-1017_-1016del
XM_017023671.1:c.-850_-849del XP_016879160.1:n.-850_-849del
XM_017023672.2:c.3_4del XP_016879161.1:p.Met1IlefsTer11
XM_017023673.2:c.3_4del XP_016879162.1:p.Met1IlefsTer11
NM_024675.4:c.3_4del MANE Select NP_078951.2:p.Met1IlefsTer11