Canonical Allele Identifier: CA2573152164
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623088_23623089dup , CM000678.2:g.23623088_23623089dup GRCh38
NC_000016.9:g.23634409_23634410dup , CM000678.1:g.23634409_23634410dup GRCh37
NC_000016.8:g.23541910_23541911dup NCBI36
NG_007406.1:g.23269_23270dup , LRG_308:g.23269_23270dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2882_2883dup ENSP00000460666.3:p.Leu962TyrfsTer3
ENST00000565038.2:c.*357_*358dup ENSP00000459882.2:n.*357_*358dup
ENST00000566069.6:c.2876_2877dup ENSP00000459237.2:p.Leu960TyrfsTer3
ENST00000697377.2:c.2720_2721dup ENSP00000513286.2:p.Leu908TyrfsTer3
ENST00000697379.2:c.2882_2883dup ENSP00000513287.2:p.Leu962TyrfsTer3
ENST00000561514.2:c.1991_1992dup ENSP00000460666.2:p.Leu665TyrfsTer3
ENST00000697374.1:c.1991_1992dup ENSP00000513284.1:p.Leu665TyrfsTer3
ENST00000697375.1:n.4223_4224dup
ENST00000697376.1:c.1991_1992dup ENSP00000513285.1:p.Leu665TyrfsTer3
ENST00000697377.1:c.1829_1830dup ENSP00000513286.1:p.Leu611TyrfsTer3
ENST00000697378.1:n.3396_3397dup
ENST00000697379.1:c.1991_1992dup ENSP00000513287.1:p.Leu665TyrfsTer3
ENST00000697380.1:n.2168_2169dup
ENST00000697381.1:n.1571_1572dup
ENST00000697382.1:c.1991_1992dup ENSP00000513288.1:p.Leu665TyrfsTer3
ENST00000697383.1:c.410_411dup ENSP00000513289.1:p.Leu138TyrfsTer3
ENST00000261584.9:c.2876_2877dup MANE Select ENSP00000261584.4:p.Leu960TyrfsTer3
ENST00000261584.8:c.2876_2877dup ENSP00000261584.4:p.Leu960TyrfsTer3
ENST00000568219.5:c.1991_1992dup ENSP00000454703.2:p.Leu665TyrfsTer3
NM_024675.3:c.2876_2877dup , LRG_308t1:c.2876_2877dup NP_078951.2:p.Leu960TyrfsTer3
XM_011545946.1:c.2882_2883dup XP_011544248.1:p.Leu962TyrfsTer3
XM_011545947.1:c.2882_2883dup XP_011544249.1:p.Leu962TyrfsTer3
XM_011545948.1:c.1991_1992dup XP_011544250.1:p.Leu665TyrfsTer3
XR_950851.1:n.3672_3673dup
XM_011545946.2:c.2882_2883dup XP_011544248.1:p.Leu962TyrfsTer3
XM_011545947.2:c.2882_2883dup XP_011544249.1:p.Leu962TyrfsTer3
XM_011545948.2:c.1991_1992dup XP_011544250.1:p.Leu665TyrfsTer3
XM_017023671.1:c.2882_2883dup XP_016879160.1:p.Leu962TyrfsTer3
XM_017023672.2:c.2876_2877dup XP_016879161.1:p.Leu960TyrfsTer3
XM_017023673.2:c.2876_2877dup XP_016879162.1:p.Leu960TyrfsTer3
NM_024675.4:c.2876_2877dup MANE Select NP_078951.2:p.Leu960TyrfsTer3