Canonical Allele Identifier: CA16620152

Gene: PALB2

Linked Data

• ClinVar Variation Id: 422680
• ClinVar RCV Id: RCV000479016 ; RCV000568264 ; RCV000635719 ; RCV001731713
• dbSNP Id: rs869312772
• MyVariant Identifiers: chr16:g.23646704dupG (hg19) ; chr16:g.23646703_23646704insG (hg19) ; chr16:g.23635383dupG (hg38) ; chr16:g.23635382_23635383insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635384dup , CM000678.2:g.23635384dup	GRCh38
NC_000016.9:g.23646705dup , CM000678.1:g.23646705dup	GRCh37
NC_000016.8:g.23554206dup	NCBI36
NG_007406.1:g.10975dup , LRG_308:g.10975dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1169dup	ENSP00000460666.3:p.Leu391SerfsTer12
ENST00000565038.2:c.211+2467dup	ENSP00000459882.2:n.211+2467dup
ENST00000566069.6:c.1163dup	ENSP00000459237.2:p.Leu389SerfsTer12
ENST00000697377.2:c.1169dup	ENSP00000513286.2:p.Leu391SerfsTer12
ENST00000697379.2:c.1169dup	ENSP00000513287.2:p.Leu391SerfsTer12
ENST00000561514.2:c.278dup	ENSP00000460666.2:p.Leu94SerfsTer12
ENST00000697374.1:c.278dup	ENSP00000513284.1:p.Leu94SerfsTer12
ENST00000697375.1:n.2510dup
ENST00000697376.1:c.278dup	ENSP00000513285.1:p.Leu94SerfsTer12
ENST00000697377.1:c.278dup	ENSP00000513286.1:p.Leu94SerfsTer12
ENST00000697378.1:n.1683dup
ENST00000697379.1:c.278dup	ENSP00000513287.1:p.Leu94SerfsTer12
ENST00000697382.1:c.278dup	ENSP00000513288.1:p.Leu94SerfsTer12
ENST00000697383.1:c.48+5727dup	ENSP00000513289.1:n.48+5727dup
ENST00000697384.1:n.1317dup
ENST00000261584.9:c.1163dup MANE Select	ENSP00000261584.4:p.Leu389SerfsTer12
ENST00000261584.8:c.1163dup	ENSP00000261584.4:p.Leu389SerfsTer12
ENST00000565038.1:c.86+2467dup
ENST00000568219.5:c.278dup	ENSP00000454703.2:p.Leu94SerfsTer12
NM_024675.3:c.1163dup , LRG_308t1:c.1163dup	NP_078951.2:p.Leu389SerfsTer12
XM_011545946.1:c.1169dup	XP_011544248.1:p.Leu391SerfsTer12
XM_011545947.1:c.1169dup	XP_011544249.1:p.Leu391SerfsTer12
XM_011545948.1:c.278dup	XP_011544250.1:p.Leu94SerfsTer12
XR_950851.1:n.1959dup
XM_011545946.2:c.1169dup	XP_011544248.1:p.Leu391SerfsTer12
XM_011545947.2:c.1169dup	XP_011544249.1:p.Leu391SerfsTer12
XM_011545948.2:c.278dup	XP_011544250.1:p.Leu94SerfsTer12
XM_017023671.1:c.1169dup	XP_016879160.1:p.Leu391SerfsTer12
XM_017023672.2:c.1163dup	XP_016879161.1:p.Leu389SerfsTer12
XM_017023673.2:c.1163dup	XP_016879162.1:p.Leu389SerfsTer12
NM_024675.4:c.1163dup MANE Select	NP_078951.2:p.Leu389SerfsTer12