Canonical Allele Identifier: CA2731895556
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630414dup , CM000678.2:g.23630414dup GRCh38
NC_000016.9:g.23641735dup , CM000678.1:g.23641735dup GRCh37
NC_000016.8:g.23549236dup NCBI36
NG_007406.1:g.15946dup , LRG_308:g.15946dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1748dup ENSP00000460666.3:p.Leu583PhefsTer5
ENST00000565038.2:c.212-1137dup ENSP00000459882.2:n.212-1137dup
ENST00000566069.6:c.1742dup ENSP00000459237.2:p.Leu581PhefsTer5
ENST00000697377.2:c.1748dup ENSP00000513286.2:p.Leu583PhefsTer5
ENST00000697379.2:c.1748dup ENSP00000513287.2:p.Leu583PhefsTer5
ENST00000561514.2:c.857dup ENSP00000460666.2:p.Leu286PhefsTer5
ENST00000697374.1:c.857dup ENSP00000513284.1:p.Leu286PhefsTer5
ENST00000697375.1:n.3089dup
ENST00000697376.1:c.857dup ENSP00000513285.1:p.Leu286PhefsTer5
ENST00000697377.1:c.857dup ENSP00000513286.1:p.Leu286PhefsTer5
ENST00000697378.1:n.2262dup
ENST00000697379.1:c.857dup ENSP00000513287.1:p.Leu286PhefsTer5
ENST00000697380.1:n.670dup
ENST00000697381.1:n.437dup
ENST00000697382.1:c.857dup ENSP00000513288.1:p.Leu286PhefsTer5
ENST00000697383.1:c.49-1137dup ENSP00000513289.1:n.49-1137dup
ENST00000697384.1:n.1896dup
ENST00000261584.9:c.1742dup MANE Select ENSP00000261584.4:p.Leu581PhefsTer5
ENST00000261584.8:c.1742dup ENSP00000261584.4:p.Leu581PhefsTer5
ENST00000565038.1:c.87-1137dup
ENST00000568219.5:c.857dup ENSP00000454703.2:p.Leu286PhefsTer5
NM_024675.3:c.1742dup , LRG_308t1:c.1742dup NP_078951.2:p.Leu581PhefsTer5
XM_011545946.1:c.1748dup XP_011544248.1:p.Leu583PhefsTer5
XM_011545947.1:c.1748dup XP_011544249.1:p.Leu583PhefsTer5
XM_011545948.1:c.857dup XP_011544250.1:p.Leu286PhefsTer5
XR_950851.1:n.2538dup
XM_011545946.2:c.1748dup XP_011544248.1:p.Leu583PhefsTer5
XM_011545947.2:c.1748dup XP_011544249.1:p.Leu583PhefsTer5
XM_011545948.2:c.857dup XP_011544250.1:p.Leu286PhefsTer5
XM_017023671.1:c.1748dup XP_016879160.1:p.Leu583PhefsTer5
XM_017023672.2:c.1742dup XP_016879161.1:p.Leu581PhefsTer5
XM_017023673.2:c.1742dup XP_016879162.1:p.Leu581PhefsTer5
NM_024675.4:c.1742dup MANE Select NP_078951.2:p.Leu581PhefsTer5