Canonical Allele Identifier: CA2580091368
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623089dup , CM000678.2:g.23623089dup GRCh38
NC_000016.9:g.23634410dup , CM000678.1:g.23634410dup GRCh37
NC_000016.8:g.23541911dup NCBI36
NG_007406.1:g.23269dup , LRG_308:g.23269dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2882dup ENSP00000460666.3:p.Leu962ThrfsTer20
ENST00000565038.2:c.*357dup ENSP00000459882.2:n.*357dup
ENST00000566069.6:c.2876dup ENSP00000459237.2:p.Leu960ThrfsTer20
ENST00000697377.2:c.2720dup ENSP00000513286.2:p.Leu908ThrfsTer20
ENST00000697379.2:c.2882dup ENSP00000513287.2:p.Leu962ThrfsTer20
ENST00000561514.2:c.1991dup ENSP00000460666.2:p.Leu665ThrfsTer20
ENST00000697374.1:c.1991dup ENSP00000513284.1:p.Leu665ThrfsTer20
ENST00000697375.1:n.4223dup
ENST00000697376.1:c.1991dup ENSP00000513285.1:p.Leu665ThrfsTer20
ENST00000697377.1:c.1829dup ENSP00000513286.1:p.Leu611ThrfsTer20
ENST00000697378.1:n.3396dup
ENST00000697379.1:c.1991dup ENSP00000513287.1:p.Leu665ThrfsTer20
ENST00000697380.1:n.2168dup
ENST00000697381.1:n.1571dup
ENST00000697382.1:c.1991dup ENSP00000513288.1:p.Leu665ThrfsTer20
ENST00000697383.1:c.410dup ENSP00000513289.1:p.Leu138ThrfsTer20
ENST00000261584.9:c.2876dup MANE Select ENSP00000261584.4:p.Leu960ThrfsTer20
ENST00000261584.8:c.2876dup ENSP00000261584.4:p.Leu960ThrfsTer20
ENST00000568219.5:c.1991dup ENSP00000454703.2:p.Leu665ThrfsTer20
NM_024675.3:c.2876dup , LRG_308t1:c.2876dup NP_078951.2:p.Leu960ThrfsTer20
XM_011545946.1:c.2882dup XP_011544248.1:p.Leu962ThrfsTer20
XM_011545947.1:c.2882dup XP_011544249.1:p.Leu962ThrfsTer20
XM_011545948.1:c.1991dup XP_011544250.1:p.Leu665ThrfsTer20
XR_950851.1:n.3672dup
XM_011545946.2:c.2882dup XP_011544248.1:p.Leu962ThrfsTer20
XM_011545947.2:c.2882dup XP_011544249.1:p.Leu962ThrfsTer20
XM_011545948.2:c.1991dup XP_011544250.1:p.Leu665ThrfsTer20
XM_017023671.1:c.2882dup XP_016879160.1:p.Leu962ThrfsTer20
XM_017023672.2:c.2876dup XP_016879161.1:p.Leu960ThrfsTer20
XM_017023673.2:c.2876dup XP_016879162.1:p.Leu960ThrfsTer20
NM_024675.4:c.2876dup MANE Select NP_078951.2:p.Leu960ThrfsTer20