Canonical Allele Identifier: CA2632328472

Gene: PALB2

Linked Data

• gnomAD v4: 16-23635087-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635090dup , CM000678.2:g.23635090dup	GRCh38
NC_000016.9:g.23646411dup , CM000678.1:g.23646411dup	GRCh37
NC_000016.8:g.23553912dup	NCBI36
NG_007406.1:g.11270dup , LRG_308:g.11270dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1464dup	ENSP00000460666.3:p.Val489SerfsTer9
ENST00000565038.2:c.211+2762dup	ENSP00000459882.2:n.211+2762dup
ENST00000566069.6:c.1458dup	ENSP00000459237.2:p.Val487SerfsTer9
ENST00000697377.2:c.1464dup	ENSP00000513286.2:p.Val489SerfsTer9
ENST00000697379.2:c.1464dup	ENSP00000513287.2:p.Val489SerfsTer9
ENST00000561514.2:c.573dup	ENSP00000460666.2:p.Val192SerfsTer9
ENST00000697374.1:c.573dup	ENSP00000513284.1:p.Val192SerfsTer9
ENST00000697375.1:n.2805dup
ENST00000697376.1:c.573dup	ENSP00000513285.1:p.Val192SerfsTer9
ENST00000697377.1:c.573dup	ENSP00000513286.1:p.Val192SerfsTer9
ENST00000697378.1:n.1978dup
ENST00000697379.1:c.573dup	ENSP00000513287.1:p.Val192SerfsTer9
ENST00000697382.1:c.573dup	ENSP00000513288.1:p.Val192SerfsTer9
ENST00000697383.1:c.49-5813dup	ENSP00000513289.1:n.49-5813dup
ENST00000697384.1:n.1612dup
ENST00000261584.9:c.1458dup MANE Select	ENSP00000261584.4:p.Val487SerfsTer9
ENST00000261584.8:c.1458dup	ENSP00000261584.4:p.Val487SerfsTer9
ENST00000565038.1:c.86+2762dup
ENST00000568219.5:c.573dup	ENSP00000454703.2:p.Val192SerfsTer9
NM_024675.3:c.1458dup , LRG_308t1:c.1458dup	NP_078951.2:p.Val487SerfsTer9
XM_011545946.1:c.1464dup	XP_011544248.1:p.Val489SerfsTer9
XM_011545947.1:c.1464dup	XP_011544249.1:p.Val489SerfsTer9
XM_011545948.1:c.573dup	XP_011544250.1:p.Val192SerfsTer9
XR_950851.1:n.2254dup
XM_011545946.2:c.1464dup	XP_011544248.1:p.Val489SerfsTer9
XM_011545947.2:c.1464dup	XP_011544249.1:p.Val489SerfsTer9
XM_011545948.2:c.573dup	XP_011544250.1:p.Val192SerfsTer9
XM_017023671.1:c.1464dup	XP_016879160.1:p.Val489SerfsTer9
XM_017023672.2:c.1458dup	XP_016879161.1:p.Val487SerfsTer9
XM_017023673.2:c.1458dup	XP_016879162.1:p.Val487SerfsTer9
NM_024675.4:c.1458dup MANE Select	NP_078951.2:p.Val487SerfsTer9