Canonical Allele Identifier: CA2213429416
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635488_23635490delinsTTC , CM000678.2:g.23635488_23635490delinsTTC GRCh38
NC_000016.9:g.23646809_23646811delinsTTC , CM000678.1:g.23646809_23646811delinsTTC GRCh37
NC_000016.8:g.23554310_23554312delinsTTC NCBI36
NG_007406.1:g.10868_10870delinsGAA , LRG_308:g.10868_10870delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1062_1064delinsGAA ENSP00000460666.3:p.Glu354=
ENST00000565038.2:c.211+2360_211+2362delinsGAA ENSP00000459882.2:n.211+2360_211+2362delinsGAA
ENST00000566069.6:c.1056_1058delinsGAA ENSP00000459237.2:p.Glu352=
ENST00000697377.2:c.1062_1064delinsGAA ENSP00000513286.2:p.Glu354=
ENST00000697379.2:c.1062_1064delinsGAA ENSP00000513287.2:p.Glu354=
ENST00000561514.2:c.171_173delinsGAA ENSP00000460666.2:p.Glu57=
ENST00000697374.1:c.171_173delinsGAA ENSP00000513284.1:p.Glu57=
ENST00000697375.1:n.2403_2405delinsGAA
ENST00000697376.1:c.171_173delinsGAA ENSP00000513285.1:p.Glu57=
ENST00000697377.1:c.171_173delinsGAA ENSP00000513286.1:p.Glu57=
ENST00000697378.1:n.1576_1578delinsGAA
ENST00000697379.1:c.171_173delinsGAA ENSP00000513287.1:p.Glu57=
ENST00000697382.1:c.171_173delinsGAA ENSP00000513288.1:p.Glu57=
ENST00000697383.1:c.48+5620_48+5622delinsGAA ENSP00000513289.1:n.48+5620_48+5622delinsGAA
ENST00000697384.1:n.1210_1212delinsGAA
ENST00000261584.9:c.1056_1058delinsGAA MANE Select ENSP00000261584.4:p.Glu352=
ENST00000261584.8:c.1056_1058delinsGAA ENSP00000261584.4:p.Glu352=
ENST00000565038.1:c.86+2360_86+2362delinsGAA
ENST00000568219.5:c.171_173delinsGAA ENSP00000454703.2:p.Glu57=
NM_024675.3:c.1056_1058delinsGAA , LRG_308t1:c.1056_1058delinsGAA NP_078951.2:p.Glu352=
XM_011545946.1:c.1062_1064delinsGAA XP_011544248.1:p.Glu354=
XM_011545947.1:c.1062_1064delinsGAA XP_011544249.1:p.Glu354=
XM_011545948.1:c.171_173delinsGAA XP_011544250.1:p.Glu57=
XR_950851.1:n.1852_1854delinsGAA
XM_011545946.2:c.1062_1064delinsGAA XP_011544248.1:p.Glu354=
XM_011545947.2:c.1062_1064delinsGAA XP_011544249.1:p.Glu354=
XM_011545948.2:c.171_173delinsGAA XP_011544250.1:p.Glu57=
XM_017023671.1:c.1062_1064delinsGAA XP_016879160.1:p.Glu354=
XM_017023672.2:c.1056_1058delinsGAA XP_016879161.1:p.Glu352=
XM_017023673.2:c.1056_1058delinsGAA XP_016879162.1:p.Glu352=
NM_024675.4:c.1056_1058delinsGAA MANE Select NP_078951.2:p.Glu352=