Canonical Allele Identifier: CA2213430267
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635704_23635705delinsAT , CM000678.2:g.23635704_23635705delinsAT GRCh38
NC_000016.9:g.23647025_23647026delinsAT , CM000678.1:g.23647025_23647026delinsAT GRCh37
NC_000016.8:g.23554526_23554527delinsAT NCBI36
NG_007406.1:g.10653_10654delinsAT , LRG_308:g.10653_10654delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.847_848delinsAT ENSP00000460666.3:p.Ile283=
ENST00000565038.2:c.211+2145_211+2146delinsAT ENSP00000459882.2:n.211+2145_211+2146delinsAT
ENST00000566069.6:c.841_842delinsAT ENSP00000459237.2:p.Ile281=
ENST00000697377.2:c.847_848delinsAT ENSP00000513286.2:p.Ile283=
ENST00000697379.2:c.847_848delinsAT ENSP00000513287.2:p.Ile283=
ENST00000561514.2:c.-45_-44delinsAT ENSP00000460666.2:n.-45_-44delinsAT
ENST00000697374.1:c.-45_-44delinsAT ENSP00000513284.1:n.-45_-44delinsAT
ENST00000697375.1:n.2188_2189delinsAT
ENST00000697376.1:c.-45_-44delinsAT ENSP00000513285.1:n.-45_-44delinsAT
ENST00000697377.1:c.-45_-44delinsAT ENSP00000513286.1:n.-45_-44delinsAT
ENST00000697378.1:n.1361_1362delinsAT
ENST00000697379.1:c.-45_-44delinsAT ENSP00000513287.1:n.-45_-44delinsAT
ENST00000697382.1:c.-45_-44delinsAT ENSP00000513288.1:n.-45_-44delinsAT
ENST00000697383.1:c.48+5405_48+5406delinsAT ENSP00000513289.1:n.48+5405_48+5406delinsAT
ENST00000697384.1:n.995_996delinsAT
ENST00000261584.9:c.841_842delinsAT MANE Select ENSP00000261584.4:p.Ile281=
ENST00000261584.8:c.841_842delinsAT ENSP00000261584.4:p.Ile281=
ENST00000565038.1:c.86+2145_86+2146delinsAT
ENST00000568219.5:c.-45_-44delinsAT ENSP00000454703.2:n.-45_-44delinsAT
NM_024675.3:c.841_842delinsAT , LRG_308t1:c.841_842delinsAT NP_078951.2:p.Ile281=
XM_011545946.1:c.847_848delinsAT XP_011544248.1:p.Ile283=
XM_011545947.1:c.847_848delinsAT XP_011544249.1:p.Ile283=
XM_011545948.1:c.-45_-44delinsAT XP_011544250.1:n.-45_-44delinsAT
XR_950851.1:n.1637_1638delinsAT
XM_011545946.2:c.847_848delinsAT XP_011544248.1:p.Ile283=
XM_011545947.2:c.847_848delinsAT XP_011544249.1:p.Ile283=
XM_011545948.2:c.-45_-44delinsAT XP_011544250.1:n.-45_-44delinsAT
XM_017023671.1:c.847_848delinsAT XP_016879160.1:p.Ile283=
XM_017023672.2:c.841_842delinsAT XP_016879161.1:p.Ile281=
XM_017023673.2:c.841_842delinsAT XP_016879162.1:p.Ile281=
NM_024675.4:c.841_842delinsAT MANE Select NP_078951.2:p.Ile281=