Canonical Allele Identifier: CA1139771127

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636057_23636058del , CM000678.2:g.23636057_23636058del	GRCh38
NC_000016.9:g.23647378_23647379del , CM000678.1:g.23647378_23647379del	GRCh37
NC_000016.8:g.23554879_23554880del	NCBI36
NG_007406.1:g.10301_10302del , LRG_308:g.10301_10302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.495_496del	ENSP00000460666.3:p.Phe166TrpfsTer3
ENST00000565038.2:c.211+1793_211+1794del	ENSP00000459882.2:n.211+1793_211+1794del
ENST00000566069.6:c.489_490del	ENSP00000459237.2:p.Phe164TrpfsTer3
ENST00000697377.2:c.495_496del	ENSP00000513286.2:p.Phe166TrpfsTer3
ENST00000697379.2:c.495_496del	ENSP00000513287.2:p.Phe166TrpfsTer3
ENST00000561514.2:c.-397_-396del	ENSP00000460666.2:n.-397_-396del
ENST00000697374.1:c.-397_-396del	ENSP00000513284.1:n.-397_-396del
ENST00000697375.1:n.1836_1837del
ENST00000697376.1:c.-397_-396del	ENSP00000513285.1:n.-397_-396del
ENST00000697377.1:c.-397_-396del	ENSP00000513286.1:n.-397_-396del
ENST00000697378.1:n.1009_1010del
ENST00000697379.1:c.-397_-396del	ENSP00000513287.1:n.-397_-396del
ENST00000697382.1:c.-397_-396del	ENSP00000513288.1:n.-397_-396del
ENST00000697383.1:c.48+5053_48+5054del	ENSP00000513289.1:n.48+5053_48+5054del
ENST00000697384.1:n.643_644del
ENST00000261584.9:c.489_490del MANE Select	ENSP00000261584.4:p.Phe164TrpfsTer3
ENST00000261584.8:c.489_490del	ENSP00000261584.4:p.Phe164TrpfsTer3
ENST00000565038.1:c.86+1793_86+1794del
ENST00000567003.1:n.767_768del
ENST00000568219.5:c.-397_-396del	ENSP00000454703.2:n.-397_-396del
NM_024675.3:c.489_490del , LRG_308t1:c.489_490del	NP_078951.2:p.Phe164TrpfsTer3
XM_011545946.1:c.495_496del	XP_011544248.1:p.Phe166TrpfsTer3
XM_011545947.1:c.495_496del	XP_011544249.1:p.Phe166TrpfsTer3
XM_011545948.1:c.-397_-396del	XP_011544250.1:n.-397_-396del
XR_950851.1:n.1285_1286del
XM_011545946.2:c.495_496del	XP_011544248.1:p.Phe166TrpfsTer3
XM_011545947.2:c.495_496del	XP_011544249.1:p.Phe166TrpfsTer3
XM_011545948.2:c.-397_-396del	XP_011544250.1:n.-397_-396del
XM_017023671.1:c.495_496del	XP_016879160.1:p.Phe166TrpfsTer3
XM_017023672.2:c.489_490del	XP_016879161.1:p.Phe164TrpfsTer3
XM_017023673.2:c.489_490del	XP_016879162.1:p.Phe164TrpfsTer3
NM_024675.4:c.489_490del MANE Select	NP_078951.2:p.Phe164TrpfsTer3