Canonical Allele Identifier: CA2573152190
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142427394

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635494_23635495insA , CM000678.2:g.23635494_23635495insA GRCh38
NC_000016.9:g.23646815_23646816insA , CM000678.1:g.23646815_23646816insA GRCh37
NC_000016.8:g.23554316_23554317insA NCBI36
NG_007406.1:g.10863_10864insT , LRG_308:g.10863_10864insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1057_1058insT ENSP00000460666.3:p.Thr353IlefsTer10
ENST00000565038.2:c.211+2355_211+2356insT ENSP00000459882.2:n.211+2355_211+2356insT
ENST00000566069.6:c.1051_1052insT ENSP00000459237.2:p.Thr351IlefsTer10
ENST00000697377.2:c.1057_1058insT ENSP00000513286.2:p.Thr353IlefsTer10
ENST00000697379.2:c.1057_1058insT ENSP00000513287.2:p.Thr353IlefsTer10
ENST00000561514.2:c.166_167insT ENSP00000460666.2:p.Thr56IlefsTer10
ENST00000697374.1:c.166_167insT ENSP00000513284.1:p.Thr56IlefsTer10
ENST00000697375.1:n.2398_2399insT
ENST00000697376.1:c.166_167insT ENSP00000513285.1:p.Thr56IlefsTer10
ENST00000697377.1:c.166_167insT ENSP00000513286.1:p.Thr56IlefsTer10
ENST00000697378.1:n.1571_1572insT
ENST00000697379.1:c.166_167insT ENSP00000513287.1:p.Thr56IlefsTer10
ENST00000697382.1:c.166_167insT ENSP00000513288.1:p.Thr56IlefsTer10
ENST00000697383.1:c.48+5615_48+5616insT ENSP00000513289.1:n.48+5615_48+5616insT
ENST00000697384.1:n.1205_1206insT
ENST00000261584.9:c.1051_1052insT MANE Select ENSP00000261584.4:p.Thr351IlefsTer10
ENST00000261584.8:c.1051_1052insT ENSP00000261584.4:p.Thr351IlefsTer10
ENST00000565038.1:c.86+2355_86+2356insT
ENST00000568219.5:c.166_167insT ENSP00000454703.2:p.Thr56IlefsTer10
NM_024675.3:c.1051_1052insT , LRG_308t1:c.1051_1052insT NP_078951.2:p.Thr351IlefsTer10
XM_011545946.1:c.1057_1058insT XP_011544248.1:p.Thr353IlefsTer10
XM_011545947.1:c.1057_1058insT XP_011544249.1:p.Thr353IlefsTer10
XM_011545948.1:c.166_167insT XP_011544250.1:p.Thr56IlefsTer10
XR_950851.1:n.1847_1848insT
XM_011545946.2:c.1057_1058insT XP_011544248.1:p.Thr353IlefsTer10
XM_011545947.2:c.1057_1058insT XP_011544249.1:p.Thr353IlefsTer10
XM_011545948.2:c.166_167insT XP_011544250.1:p.Thr56IlefsTer10
XM_017023671.1:c.1057_1058insT XP_016879160.1:p.Thr353IlefsTer10
XM_017023672.2:c.1051_1052insT XP_016879161.1:p.Thr351IlefsTer10
XM_017023673.2:c.1051_1052insT XP_016879162.1:p.Thr351IlefsTer10
NM_024675.4:c.1051_1052insT MANE Select NP_078951.2:p.Thr351IlefsTer10