Canonical Allele Identifier: CA2213429445
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635497_23635498delinsTG , CM000678.2:g.23635497_23635498delinsTG GRCh38
NC_000016.9:g.23646818_23646819delinsTG , CM000678.1:g.23646818_23646819delinsTG GRCh37
NC_000016.8:g.23554319_23554320delinsTG NCBI36
NG_007406.1:g.10860_10861delinsCA , LRG_308:g.10860_10861delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1054_1055delinsCA ENSP00000460666.3:p.Gln352=
ENST00000565038.2:c.211+2352_211+2353delinsCA ENSP00000459882.2:n.211+2352_211+2353delinsCA
ENST00000566069.6:c.1048_1049delinsCA ENSP00000459237.2:p.Gln350=
ENST00000697377.2:c.1054_1055delinsCA ENSP00000513286.2:p.Gln352=
ENST00000697379.2:c.1054_1055delinsCA ENSP00000513287.2:p.Gln352=
ENST00000561514.2:c.163_164delinsCA ENSP00000460666.2:p.Gln55=
ENST00000697374.1:c.163_164delinsCA ENSP00000513284.1:p.Gln55=
ENST00000697375.1:n.2395_2396delinsCA
ENST00000697376.1:c.163_164delinsCA ENSP00000513285.1:p.Gln55=
ENST00000697377.1:c.163_164delinsCA ENSP00000513286.1:p.Gln55=
ENST00000697378.1:n.1568_1569delinsCA
ENST00000697379.1:c.163_164delinsCA ENSP00000513287.1:p.Gln55=
ENST00000697382.1:c.163_164delinsCA ENSP00000513288.1:p.Gln55=
ENST00000697383.1:c.48+5612_48+5613delinsCA ENSP00000513289.1:n.48+5612_48+5613delinsCA
ENST00000697384.1:n.1202_1203delinsCA
ENST00000261584.9:c.1048_1049delinsCA MANE Select ENSP00000261584.4:p.Gln350=
ENST00000261584.8:c.1048_1049delinsCA ENSP00000261584.4:p.Gln350=
ENST00000565038.1:c.86+2352_86+2353delinsCA
ENST00000568219.5:c.163_164delinsCA ENSP00000454703.2:p.Gln55=
NM_024675.3:c.1048_1049delinsCA , LRG_308t1:c.1048_1049delinsCA NP_078951.2:p.Gln350=
XM_011545946.1:c.1054_1055delinsCA XP_011544248.1:p.Gln352=
XM_011545947.1:c.1054_1055delinsCA XP_011544249.1:p.Gln352=
XM_011545948.1:c.163_164delinsCA XP_011544250.1:p.Gln55=
XR_950851.1:n.1844_1845delinsCA
XM_011545946.2:c.1054_1055delinsCA XP_011544248.1:p.Gln352=
XM_011545947.2:c.1054_1055delinsCA XP_011544249.1:p.Gln352=
XM_011545948.2:c.163_164delinsCA XP_011544250.1:p.Gln55=
XM_017023671.1:c.1054_1055delinsCA XP_016879160.1:p.Gln352=
XM_017023672.2:c.1048_1049delinsCA XP_016879161.1:p.Gln350=
XM_017023673.2:c.1048_1049delinsCA XP_016879162.1:p.Gln350=
NM_024675.4:c.1048_1049delinsCA MANE Select NP_078951.2:p.Gln350=