Canonical Allele Identifier: CA2213427619
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634999_23635000delinsCT , CM000678.2:g.23634999_23635000delinsCT GRCh38
NC_000016.9:g.23646320_23646321delinsCT , CM000678.1:g.23646320_23646321delinsCT GRCh37
NC_000016.8:g.23553821_23553822delinsCT NCBI36
NG_007406.1:g.11358_11359delinsAG , LRG_308:g.11358_11359delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1552_1553delinsAG ENSP00000460666.3:p.Arg518=
ENST00000565038.2:c.211+2850_211+2851delinsAG ENSP00000459882.2:n.211+2850_211+2851delinsAG
ENST00000566069.6:c.1546_1547delinsAG ENSP00000459237.2:p.Arg516=
ENST00000697377.2:c.1552_1553delinsAG ENSP00000513286.2:p.Arg518=
ENST00000697379.2:c.1552_1553delinsAG ENSP00000513287.2:p.Arg518=
ENST00000561514.2:c.661_662delinsAG ENSP00000460666.2:p.Arg221=
ENST00000697374.1:c.661_662delinsAG ENSP00000513284.1:p.Arg221=
ENST00000697375.1:n.2893_2894delinsAG
ENST00000697376.1:c.661_662delinsAG ENSP00000513285.1:p.Arg221=
ENST00000697377.1:c.661_662delinsAG ENSP00000513286.1:p.Arg221=
ENST00000697378.1:n.2066_2067delinsAG
ENST00000697379.1:c.661_662delinsAG ENSP00000513287.1:p.Arg221=
ENST00000697382.1:c.661_662delinsAG ENSP00000513288.1:p.Arg221=
ENST00000697383.1:c.49-5725_49-5724delinsAG ENSP00000513289.1:n.49-5725_49-5724delinsAG
ENST00000697384.1:n.1700_1701delinsAG
ENST00000261584.9:c.1546_1547delinsAG MANE Select ENSP00000261584.4:p.Arg516=
ENST00000261584.8:c.1546_1547delinsAG ENSP00000261584.4:p.Arg516=
ENST00000565038.1:c.86+2850_86+2851delinsAG
ENST00000568219.5:c.661_662delinsAG ENSP00000454703.2:p.Arg221=
NM_024675.3:c.1546_1547delinsAG , LRG_308t1:c.1546_1547delinsAG NP_078951.2:p.Arg516=
XM_011545946.1:c.1552_1553delinsAG XP_011544248.1:p.Arg518=
XM_011545947.1:c.1552_1553delinsAG XP_011544249.1:p.Arg518=
XM_011545948.1:c.661_662delinsAG XP_011544250.1:p.Arg221=
XR_950851.1:n.2342_2343delinsAG
XM_011545946.2:c.1552_1553delinsAG XP_011544248.1:p.Arg518=
XM_011545947.2:c.1552_1553delinsAG XP_011544249.1:p.Arg518=
XM_011545948.2:c.661_662delinsAG XP_011544250.1:p.Arg221=
XM_017023671.1:c.1552_1553delinsAG XP_016879160.1:p.Arg518=
XM_017023672.2:c.1546_1547delinsAG XP_016879161.1:p.Arg516=
XM_017023673.2:c.1546_1547delinsAG XP_016879162.1:p.Arg516=
NM_024675.4:c.1546_1547delinsAG MANE Select NP_078951.2:p.Arg516=