Canonical Allele Identifier: CA916081859

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830137
• ClinVar RCV Id: RCV001030222
• dbSNP Id: rs1966971699

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635149_23635152dup , CM000678.2:g.23635149_23635152dup	GRCh38
NC_000016.9:g.23646470_23646473dup , CM000678.1:g.23646470_23646473dup	GRCh37
NC_000016.8:g.23553971_23553974dup	NCBI36
NG_007406.1:g.11208_11211dup , LRG_308:g.11208_11211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1402_1405dup	ENSP00000460666.3:p.Gly469ValfsTer21
ENST00000565038.2:c.211+2700_211+2703dup	ENSP00000459882.2:n.211+2700_211+2703dup
ENST00000566069.6:c.1396_1399dup	ENSP00000459237.2:p.Gly467ValfsTer21
ENST00000697377.2:c.1402_1405dup	ENSP00000513286.2:p.Gly469ValfsTer21
ENST00000697379.2:c.1402_1405dup	ENSP00000513287.2:p.Gly469ValfsTer21
ENST00000561514.2:c.511_514dup	ENSP00000460666.2:p.Gly172ValfsTer21
ENST00000697374.1:c.511_514dup	ENSP00000513284.1:p.Gly172ValfsTer21
ENST00000697375.1:n.2743_2746dup
ENST00000697376.1:c.511_514dup	ENSP00000513285.1:p.Gly172ValfsTer21
ENST00000697377.1:c.511_514dup	ENSP00000513286.1:p.Gly172ValfsTer21
ENST00000697378.1:n.1916_1919dup
ENST00000697379.1:c.511_514dup	ENSP00000513287.1:p.Gly172ValfsTer21
ENST00000697382.1:c.511_514dup	ENSP00000513288.1:p.Gly172ValfsTer21
ENST00000697383.1:c.49-5875_49-5872dup	ENSP00000513289.1:n.49-5875_49-5872dup
ENST00000697384.1:n.1550_1553dup
ENST00000261584.9:c.1396_1399dup MANE Select	ENSP00000261584.4:p.Gly467ValfsTer21
ENST00000261584.8:c.1396_1399dup	ENSP00000261584.4:p.Gly467ValfsTer21
ENST00000565038.1:c.86+2700_86+2703dup
ENST00000568219.5:c.511_514dup	ENSP00000454703.2:p.Gly172ValfsTer21
NM_024675.3:c.1396_1399dup , LRG_308t1:c.1396_1399dup	NP_078951.2:p.Gly467ValfsTer21
XM_011545946.1:c.1402_1405dup	XP_011544248.1:p.Gly469ValfsTer21
XM_011545947.1:c.1402_1405dup	XP_011544249.1:p.Gly469ValfsTer21
XM_011545948.1:c.511_514dup	XP_011544250.1:p.Gly172ValfsTer21
XR_950851.1:n.2192_2195dup
XM_011545946.2:c.1402_1405dup	XP_011544248.1:p.Gly469ValfsTer21
XM_011545947.2:c.1402_1405dup	XP_011544249.1:p.Gly469ValfsTer21
XM_011545948.2:c.511_514dup	XP_011544250.1:p.Gly172ValfsTer21
XM_017023671.1:c.1402_1405dup	XP_016879160.1:p.Gly469ValfsTer21
XM_017023672.2:c.1396_1399dup	XP_016879161.1:p.Gly467ValfsTer21
XM_017023673.2:c.1396_1399dup	XP_016879162.1:p.Gly467ValfsTer21
NM_024675.4:c.1396_1399dup MANE Select	NP_078951.2:p.Gly467ValfsTer21