Canonical Allele Identifier: CA915949166
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 666024
ClinVar RCV Id: RCV000824430 RCV002442769
dbSNP Id: rs1597079711
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621413_23621414dup , CM000678.2:g.23621413_23621414dup GRCh38
NC_000016.9:g.23632734_23632735dup , CM000678.1:g.23632734_23632735dup GRCh37
NC_000016.8:g.23540235_23540236dup NCBI36
NG_007406.1:g.24945_24946dup , LRG_308:g.24945_24946dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3068_3069dup ENSP00000460666.3:p.Met1024GlyfsTer12
ENST00000565038.2:c.*543_*544dup ENSP00000459882.2:n.*543_*544dup
ENST00000566069.6:c.3062_3063dup ENSP00000459237.2:p.Met1022GlyfsTer12
ENST00000697377.2:c.2906_2907dup ENSP00000513286.2:p.Met970GlyfsTer12
ENST00000697379.2:c.3068_3069dup ENSP00000513287.2:p.Met1024GlyfsTer12
ENST00000561514.2:c.2177_2178dup ENSP00000460666.2:p.Met727GlyfsTer12
ENST00000697374.1:c.2177_2178dup ENSP00000513284.1:p.Met727GlyfsTer12
ENST00000697375.1:n.4409_4410dup
ENST00000697376.1:c.2177_2178dup ENSP00000513285.1:p.Met727GlyfsTer12
ENST00000697377.1:c.2015_2016dup ENSP00000513286.1:p.Met673GlyfsTer12
ENST00000697378.1:n.3582_3583dup
ENST00000697379.1:c.2177_2178dup ENSP00000513287.1:p.Met727GlyfsTer12
ENST00000697380.1:n.2354_2355dup
ENST00000697381.1:n.1757_1758dup
ENST00000697382.1:c.2177_2178dup ENSP00000513288.1:p.Met727GlyfsTer12
ENST00000697383.1:c.596_597dup ENSP00000513289.1:p.Met200GlyfsTer12
ENST00000261584.9:c.3062_3063dup MANE Select ENSP00000261584.4:p.Met1022GlyfsTer12
ENST00000261584.8:c.3062_3063dup ENSP00000261584.4:p.Met1022GlyfsTer12
ENST00000568219.5:c.2177_2178dup ENSP00000454703.2:p.Met727GlyfsTer12
NM_024675.3:c.3062_3063dup , LRG_308t1:c.3062_3063dup NP_078951.2:p.Met1022GlyfsTer12
XM_011545946.1:c.3068_3069dup XP_011544248.1:p.Met1024GlyfsTer12
XM_011545947.1:c.3068_3069dup XP_011544249.1:p.Met1024GlyfsTer12
XM_011545948.1:c.2177_2178dup XP_011544250.1:p.Met727GlyfsTer12
XR_950851.1:n.3858_3859dup
XM_011545946.2:c.3068_3069dup XP_011544248.1:p.Met1024GlyfsTer12
XM_011545947.2:c.3068_3069dup XP_011544249.1:p.Met1024GlyfsTer12
XM_011545948.2:c.2177_2178dup XP_011544250.1:p.Met727GlyfsTer12
XM_017023671.1:c.3068_3069dup XP_016879160.1:p.Met1024GlyfsTer12
XM_017023672.2:c.3062_3063dup XP_016879161.1:p.Met1022GlyfsTer12
XM_017023673.2:c.3062_3063dup XP_016879162.1:p.Met1022GlyfsTer12
NM_024675.4:c.3062_3063dup MANE Select NP_078951.2:p.Met1022GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'