Canonical Allele Identifier: CA2499223434

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1074633
• ClinVar RCV Id: RCV001387992 ; RCV003319472 ; RCV004037692
• dbSNP Id: rs2142412914

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634999_23635000del , CM000678.2:g.23634999_23635000del	GRCh38
NC_000016.9:g.23646320_23646321del , CM000678.1:g.23646320_23646321del	GRCh37
NC_000016.8:g.23553821_23553822del	NCBI36
NG_007406.1:g.11359_11360del , LRG_308:g.11359_11360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1553_1554del	ENSP00000460666.3:p.Arg518LysfsTer12
ENST00000565038.2:c.211+2851_211+2852del	ENSP00000459882.2:n.211+2851_211+2852del
ENST00000566069.6:c.1547_1548del	ENSP00000459237.2:p.Arg516LysfsTer12
ENST00000697377.2:c.1553_1554del	ENSP00000513286.2:p.Arg518LysfsTer12
ENST00000697379.2:c.1553_1554del	ENSP00000513287.2:p.Arg518LysfsTer12
ENST00000561514.2:c.662_663del	ENSP00000460666.2:p.Arg221LysfsTer12
ENST00000697374.1:c.662_663del	ENSP00000513284.1:p.Arg221LysfsTer12
ENST00000697375.1:n.2894_2895del
ENST00000697376.1:c.662_663del	ENSP00000513285.1:p.Arg221LysfsTer12
ENST00000697377.1:c.662_663del	ENSP00000513286.1:p.Arg221LysfsTer12
ENST00000697378.1:n.2067_2068del
ENST00000697379.1:c.662_663del	ENSP00000513287.1:p.Arg221LysfsTer12
ENST00000697382.1:c.662_663del	ENSP00000513288.1:p.Arg221LysfsTer12
ENST00000697383.1:c.49-5724_49-5723del	ENSP00000513289.1:n.49-5724_49-5723del
ENST00000697384.1:n.1701_1702del
ENST00000261584.9:c.1547_1548del MANE Select	ENSP00000261584.4:p.Arg516LysfsTer12
ENST00000261584.8:c.1547_1548del	ENSP00000261584.4:p.Arg516LysfsTer12
ENST00000565038.1:c.86+2851_86+2852del
ENST00000568219.5:c.662_663del	ENSP00000454703.2:p.Arg221LysfsTer12
NM_024675.3:c.1547_1548del , LRG_308t1:c.1547_1548del	NP_078951.2:p.Arg516LysfsTer12
XM_011545946.1:c.1553_1554del	XP_011544248.1:p.Arg518LysfsTer12
XM_011545947.1:c.1553_1554del	XP_011544249.1:p.Arg518LysfsTer12
XM_011545948.1:c.662_663del	XP_011544250.1:p.Arg221LysfsTer12
XR_950851.1:n.2343_2344del
XM_011545946.2:c.1553_1554del	XP_011544248.1:p.Arg518LysfsTer12
XM_011545947.2:c.1553_1554del	XP_011544249.1:p.Arg518LysfsTer12
XM_011545948.2:c.662_663del	XP_011544250.1:p.Arg221LysfsTer12
XM_017023671.1:c.1553_1554del	XP_016879160.1:p.Arg518LysfsTer12
XM_017023672.2:c.1547_1548del	XP_016879161.1:p.Arg516LysfsTer12
XM_017023673.2:c.1547_1548del	XP_016879162.1:p.Arg516LysfsTer12
NM_024675.4:c.1547_1548del MANE Select	NP_078951.2:p.Arg516LysfsTer12