Canonical Allele Identifier: CA16620163

Gene: PALB2

Linked Data

• ClinVar Variation Id: 419754
• ClinVar RCV Id: RCV000485222 ; RCV003607292
• dbSNP Id: rs1064794085

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637941_23637942delinsAA , CM000678.2:g.23637941_23637942delinsAA	GRCh38
NC_000016.9:g.23649262_23649263delinsAA , CM000678.1:g.23649262_23649263delinsAA	GRCh37
NC_000016.8:g.23556763_23556764delinsAA	NCBI36
NG_007406.1:g.8416_8417delinsTT , LRG_308:g.8416_8417delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.125_126delinsTT	ENSP00000460666.3:p.Arg42Ile
ENST00000565038.2:c.119_120delinsTT	ENSP00000459882.2:p.Arg40Ile
ENST00000566069.6:c.119_120delinsTT	ENSP00000459237.2:p.Arg40Ile
ENST00000697377.2:c.125_126delinsTT	ENSP00000513286.2:p.Arg42Ile
ENST00000697379.2:c.125_126delinsTT	ENSP00000513287.2:p.Arg42Ile
ENST00000561514.2:c.-767_-766delinsTT	ENSP00000460666.2:n.-767_-766delinsTT
ENST00000697374.1:c.-767_-766delinsTT	ENSP00000513284.1:n.-767_-766delinsTT
ENST00000697375.1:n.1466_1467delinsTT
ENST00000697376.1:c.-767_-766delinsTT	ENSP00000513285.1:n.-767_-766delinsTT
ENST00000697377.1:c.-767_-766delinsTT	ENSP00000513286.1:n.-767_-766delinsTT
ENST00000697378.1:n.639_640delinsTT
ENST00000697379.1:c.-767_-766delinsTT	ENSP00000513287.1:n.-767_-766delinsTT
ENST00000697382.1:c.-767_-766delinsTT	ENSP00000513288.1:n.-767_-766delinsTT
ENST00000697383.1:c.48+3168_48+3169delinsTT	ENSP00000513289.1:n.48+3168_48+3169delinsTT
ENST00000697384.1:n.273_274delinsTT
ENST00000261584.9:c.119_120delinsTT MANE Select	ENSP00000261584.4:p.Arg40Ile
ENST00000261584.8:c.119_120delinsTT	ENSP00000261584.4:p.Arg40Ile
ENST00000561514.1:c.125_126delinsTT	ENSP00000460666.1:p.Arg42Ile
ENST00000567003.1:n.397_398delinsTT
ENST00000568219.5:c.-767_-766delinsTT	ENSP00000454703.2:n.-767_-766delinsTT
NM_024675.3:c.119_120delinsTT , LRG_308t1:c.119_120delinsTT	NP_078951.2:p.Arg40Ile
XM_011545946.1:c.125_126delinsTT	XP_011544248.1:p.Arg42Ile
XM_011545947.1:c.125_126delinsTT	XP_011544249.1:p.Arg42Ile
XM_011545948.1:c.-767_-766delinsTT	XP_011544250.1:n.-767_-766delinsTT
XR_950851.1:n.915_916delinsTT
XM_011545946.2:c.125_126delinsTT	XP_011544248.1:p.Arg42Ile
XM_011545947.2:c.125_126delinsTT	XP_011544249.1:p.Arg42Ile
XM_011545948.2:c.-767_-766delinsTT	XP_011544250.1:n.-767_-766delinsTT
XM_017023671.1:c.125_126delinsTT	XP_016879160.1:p.Arg42Ile
XM_017023672.2:c.119_120delinsTT	XP_016879161.1:p.Arg40Ile
XM_017023673.2:c.119_120delinsTT	XP_016879162.1:p.Arg40Ile
NM_024675.4:c.119_120delinsTT MANE Select	NP_078951.2:p.Arg40Ile