Canonical Allele Identifier: CA2213432511
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636329T= , CM000678.2:g.23636329T= GRCh38
NC_000016.9:g.23647650T= , CM000678.1:g.23647650T= GRCh37
NC_000016.8:g.23555151T= NCBI36
NG_007406.1:g.10029A= , LRG_308:g.10029A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.223A= ENSP00000460666.3:p.Lys75=
ENST00000565038.2:c.211+1521A= ENSP00000459882.2:n.211+1521A=
ENST00000566069.6:c.217A= ENSP00000459237.2:p.Lys73=
ENST00000697377.2:c.223A= ENSP00000513286.2:p.Lys75=
ENST00000697379.2:c.223A= ENSP00000513287.2:p.Lys75=
ENST00000561514.2:c.-669A= ENSP00000460666.2:n.-669A=
ENST00000697374.1:c.-669A= ENSP00000513284.1:n.-669A=
ENST00000697375.1:n.1564A=
ENST00000697376.1:c.-669A= ENSP00000513285.1:n.-669A=
ENST00000697377.1:c.-669A= ENSP00000513286.1:n.-669A=
ENST00000697378.1:n.737A=
ENST00000697379.1:c.-669A= ENSP00000513287.1:n.-669A=
ENST00000697382.1:c.-669A= ENSP00000513288.1:n.-669A=
ENST00000697383.1:c.48+4781A= ENSP00000513289.1:n.48+4781A=
ENST00000697384.1:n.371A=
ENST00000261584.9:c.217A= MANE Select ENSP00000261584.4:p.Lys73=
ENST00000261584.8:c.217A= ENSP00000261584.4:p.Lys73=
ENST00000561514.1:c.223A= ENSP00000460666.1:p.Lys75=
ENST00000565038.1:c.86+1521A=
ENST00000567003.1:n.495A=
ENST00000568219.5:c.-669A= ENSP00000454703.2:n.-669A=
NM_024675.3:c.217A= , LRG_308t1:c.217A= NP_078951.2:p.Lys73=
XM_011545946.1:c.223A= XP_011544248.1:p.Lys75=
XM_011545947.1:c.223A= XP_011544249.1:p.Lys75=
XM_011545948.1:c.-669A= XP_011544250.1:n.-669A=
XR_950851.1:n.1013A=
XM_011545946.2:c.223A= XP_011544248.1:p.Lys75=
XM_011545947.2:c.223A= XP_011544249.1:p.Lys75=
XM_011545948.2:c.-669A= XP_011544250.1:n.-669A=
XM_017023671.1:c.223A= XP_016879160.1:p.Lys75=
XM_017023672.2:c.217A= XP_016879161.1:p.Lys73=
XM_017023673.2:c.217A= XP_016879162.1:p.Lys73=
NM_024675.4:c.217A= MANE Select NP_078951.2:p.Lys73=