Canonical Allele Identifier: CA2830557180
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635555_23635556insTA , CM000678.2:g.23635555_23635556insTA GRCh38
NC_000016.9:g.23646876_23646877insTA , CM000678.1:g.23646876_23646877insTA GRCh37
NC_000016.8:g.23554377_23554378insTA NCBI36
NG_007406.1:g.10802_10803insTA , LRG_308:g.10802_10803insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.996_997insTA ENSP00000460666.3:p.Glu333Ter
ENST00000565038.2:c.211+2294_211+2295insTA ENSP00000459882.2:n.211+2294_211+2295insTA
ENST00000566069.6:c.990_991insTA ENSP00000459237.2:p.Glu331Ter
ENST00000697377.2:c.996_997insTA ENSP00000513286.2:p.Glu333Ter
ENST00000697379.2:c.996_997insTA ENSP00000513287.2:p.Glu333Ter
ENST00000561514.2:c.105_106insTA ENSP00000460666.2:p.Glu36Ter
ENST00000697374.1:c.105_106insTA ENSP00000513284.1:p.Glu36Ter
ENST00000697375.1:n.2337_2338insTA
ENST00000697376.1:c.105_106insTA ENSP00000513285.1:p.Glu36Ter
ENST00000697377.1:c.105_106insTA ENSP00000513286.1:p.Glu36Ter
ENST00000697378.1:n.1510_1511insTA
ENST00000697379.1:c.105_106insTA ENSP00000513287.1:p.Glu36Ter
ENST00000697382.1:c.105_106insTA ENSP00000513288.1:p.Glu36Ter
ENST00000697383.1:c.48+5554_48+5555insTA ENSP00000513289.1:n.48+5554_48+5555insTA
ENST00000697384.1:n.1144_1145insTA
ENST00000261584.9:c.990_991insTA MANE Select ENSP00000261584.4:p.Glu331Ter
ENST00000261584.8:c.990_991insTA ENSP00000261584.4:p.Glu331Ter
ENST00000565038.1:c.86+2294_86+2295insTA
ENST00000568219.5:c.105_106insTA ENSP00000454703.2:p.Glu36Ter
NM_024675.3:c.990_991insTA , LRG_308t1:c.990_991insTA NP_078951.2:p.Glu331Ter
XM_011545946.1:c.996_997insTA XP_011544248.1:p.Glu333Ter
XM_011545947.1:c.996_997insTA XP_011544249.1:p.Glu333Ter
XM_011545948.1:c.105_106insTA XP_011544250.1:p.Glu36Ter
XR_950851.1:n.1786_1787insTA
XM_011545946.2:c.996_997insTA XP_011544248.1:p.Glu333Ter
XM_011545947.2:c.996_997insTA XP_011544249.1:p.Glu333Ter
XM_011545948.2:c.105_106insTA XP_011544250.1:p.Glu36Ter
XM_017023671.1:c.996_997insTA XP_016879160.1:p.Glu333Ter
XM_017023672.2:c.990_991insTA XP_016879161.1:p.Glu331Ter
XM_017023673.2:c.990_991insTA XP_016879162.1:p.Glu331Ter
NM_024675.4:c.990_991insTA MANE Select NP_078951.2:p.Glu331Ter