Canonical Allele Identifier: CA658683909

Gene: PALB2

Linked Data

• ClinVar Variation Id: 492165
• ClinVar RCV Id: RCV000582395 ; RCV001225187
• dbSNP Id: rs587781560
• MyVariant Identifiers: chr16:g.23646321dup (hg19) ; chr16:g.23635000dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635004dup , CM000678.2:g.23635004dup	GRCh38
NC_000016.9:g.23646325dup , CM000678.1:g.23646325dup	GRCh37
NC_000016.8:g.23553826dup	NCBI36
NG_007406.1:g.11358dup , LRG_308:g.11358dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1552dup	ENSP00000460666.3:p.Arg518LysfsTer13
ENST00000565038.2:c.211+2850dup	ENSP00000459882.2:n.211+2850dup
ENST00000566069.6:c.1546dup	ENSP00000459237.2:p.Arg516LysfsTer13
ENST00000697377.2:c.1552dup	ENSP00000513286.2:p.Arg518LysfsTer13
ENST00000697379.2:c.1552dup	ENSP00000513287.2:p.Arg518LysfsTer13
ENST00000561514.2:c.661dup	ENSP00000460666.2:p.Arg221LysfsTer13
ENST00000697374.1:c.661dup	ENSP00000513284.1:p.Arg221LysfsTer13
ENST00000697375.1:n.2893dup
ENST00000697376.1:c.661dup	ENSP00000513285.1:p.Arg221LysfsTer13
ENST00000697377.1:c.661dup	ENSP00000513286.1:p.Arg221LysfsTer13
ENST00000697378.1:n.2066dup
ENST00000697379.1:c.661dup	ENSP00000513287.1:p.Arg221LysfsTer13
ENST00000697382.1:c.661dup	ENSP00000513288.1:p.Arg221LysfsTer13
ENST00000697383.1:c.49-5725dup	ENSP00000513289.1:n.49-5725dup
ENST00000697384.1:n.1700dup
ENST00000261584.9:c.1546dup MANE Select	ENSP00000261584.4:p.Arg516LysfsTer13
ENST00000261584.8:c.1546dup	ENSP00000261584.4:p.Arg516LysfsTer13
ENST00000565038.1:c.86+2850dup
ENST00000568219.5:c.661dup	ENSP00000454703.2:p.Arg221LysfsTer13
NM_024675.3:c.1546dup , LRG_308t1:c.1546dup	NP_078951.2:p.Arg516LysfsTer13
XM_011545946.1:c.1552dup	XP_011544248.1:p.Arg518LysfsTer13
XM_011545947.1:c.1552dup	XP_011544249.1:p.Arg518LysfsTer13
XM_011545948.1:c.661dup	XP_011544250.1:p.Arg221LysfsTer13
XR_950851.1:n.2342dup
XM_011545946.2:c.1552dup	XP_011544248.1:p.Arg518LysfsTer13
XM_011545947.2:c.1552dup	XP_011544249.1:p.Arg518LysfsTer13
XM_011545948.2:c.661dup	XP_011544250.1:p.Arg221LysfsTer13
XM_017023671.1:c.1552dup	XP_016879160.1:p.Arg518LysfsTer13
XM_017023672.2:c.1546dup	XP_016879161.1:p.Arg516LysfsTer13
XM_017023673.2:c.1546dup	XP_016879162.1:p.Arg516LysfsTer13
NM_024675.4:c.1546dup MANE Select	NP_078951.2:p.Arg516LysfsTer13