Canonical Allele Identifier: CA2632327902
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636218dup , CM000678.2:g.23636218dup GRCh38
NC_000016.9:g.23647539dup , CM000678.1:g.23647539dup GRCh37
NC_000016.8:g.23555040dup NCBI36
NG_007406.1:g.10141dup , LRG_308:g.10141dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.335dup ENSP00000460666.3:p.Asp113ArgfsTer13
ENST00000565038.2:c.211+1633dup ENSP00000459882.2:n.211+1633dup
ENST00000566069.6:c.329dup ENSP00000459237.2:p.Asp111ArgfsTer13
ENST00000697377.2:c.335dup ENSP00000513286.2:p.Asp113ArgfsTer13
ENST00000697379.2:c.335dup ENSP00000513287.2:p.Asp113ArgfsTer13
ENST00000561514.2:c.-557dup ENSP00000460666.2:n.-557dup
ENST00000697374.1:c.-557dup ENSP00000513284.1:n.-557dup
ENST00000697375.1:n.1676dup
ENST00000697376.1:c.-557dup ENSP00000513285.1:n.-557dup
ENST00000697377.1:c.-557dup ENSP00000513286.1:n.-557dup
ENST00000697378.1:n.849dup
ENST00000697379.1:c.-557dup ENSP00000513287.1:n.-557dup
ENST00000697382.1:c.-557dup ENSP00000513288.1:n.-557dup
ENST00000697383.1:c.48+4893dup ENSP00000513289.1:n.48+4893dup
ENST00000697384.1:n.483dup
ENST00000261584.9:c.329dup MANE Select ENSP00000261584.4:p.Asp111ArgfsTer13
ENST00000261584.8:c.329dup ENSP00000261584.4:p.Asp111ArgfsTer13
ENST00000565038.1:c.86+1633dup
ENST00000567003.1:n.607dup
ENST00000568219.5:c.-557dup ENSP00000454703.2:n.-557dup
NM_024675.3:c.329dup , LRG_308t1:c.329dup NP_078951.2:p.Asp111ArgfsTer13
XM_011545946.1:c.335dup XP_011544248.1:p.Asp113ArgfsTer13
XM_011545947.1:c.335dup XP_011544249.1:p.Asp113ArgfsTer13
XM_011545948.1:c.-557dup XP_011544250.1:n.-557dup
XR_950851.1:n.1125dup
XM_011545946.2:c.335dup XP_011544248.1:p.Asp113ArgfsTer13
XM_011545947.2:c.335dup XP_011544249.1:p.Asp113ArgfsTer13
XM_011545948.2:c.-557dup XP_011544250.1:n.-557dup
XM_017023671.1:c.335dup XP_016879160.1:p.Asp113ArgfsTer13
XM_017023672.2:c.329dup XP_016879161.1:p.Asp111ArgfsTer13
XM_017023673.2:c.329dup XP_016879162.1:p.Asp111ArgfsTer13
NM_024675.4:c.329dup MANE Select NP_078951.2:p.Asp111ArgfsTer13