Canonical Allele Identifier: CA2695197482

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674072
• ClinVar RCV Id: RCV003452268

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635192_23635307del , CM000678.2:g.23635192_23635307del	GRCh38
NC_000016.9:g.23646513_23646628del , CM000678.1:g.23646513_23646628del	GRCh37
NC_000016.8:g.23554014_23554129del	NCBI36
NG_007406.1:g.11053_11168del , LRG_308:g.11053_11168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1247_1362del	ENSP00000460666.3:p.Arg416ProfsTer4
ENST00000565038.2:c.211+2545_211+2660del	ENSP00000459882.2:n.211+2545_211+2660del
ENST00000566069.6:c.1241_1356del	ENSP00000459237.2:p.Arg414ProfsTer4
ENST00000697377.2:c.1247_1362del	ENSP00000513286.2:p.Arg416ProfsTer4
ENST00000697379.2:c.1247_1362del	ENSP00000513287.2:p.Arg416ProfsTer4
ENST00000561514.2:c.356_471del	ENSP00000460666.2:p.Arg119ProfsTer4
ENST00000697374.1:c.356_471del	ENSP00000513284.1:p.Arg119ProfsTer4
ENST00000697375.1:n.2588_2703del
ENST00000697376.1:c.356_471del	ENSP00000513285.1:p.Arg119ProfsTer4
ENST00000697377.1:c.356_471del	ENSP00000513286.1:p.Arg119ProfsTer4
ENST00000697378.1:n.1761_1876del
ENST00000697379.1:c.356_471del	ENSP00000513287.1:p.Arg119ProfsTer4
ENST00000697382.1:c.356_471del	ENSP00000513288.1:p.Arg119ProfsTer4
ENST00000697383.1:c.48+5805_49-5915del	ENSP00000513289.1:n.48+5805_49-5915del
ENST00000697384.1:n.1395_1510del
ENST00000261584.9:c.1241_1356del MANE Select	ENSP00000261584.4:p.Arg414ProfsTer4
ENST00000261584.8:c.1241_1356del	ENSP00000261584.4:p.Arg414ProfsTer4
ENST00000565038.1:c.86+2545_86+2660del
ENST00000568219.5:c.356_471del	ENSP00000454703.2:p.Arg119ProfsTer4
NM_024675.3:c.1241_1356del , LRG_308t1:c.1241_1356del	NP_078951.2:p.Arg414ProfsTer4
XM_011545946.1:c.1247_1362del	XP_011544248.1:p.Arg416ProfsTer4
XM_011545947.1:c.1247_1362del	XP_011544249.1:p.Arg416ProfsTer4
XM_011545948.1:c.356_471del	XP_011544250.1:p.Arg119ProfsTer4
XR_950851.1:n.2037_2152del
XM_011545946.2:c.1247_1362del	XP_011544248.1:p.Arg416ProfsTer4
XM_011545947.2:c.1247_1362del	XP_011544249.1:p.Arg416ProfsTer4
XM_011545948.2:c.356_471del	XP_011544250.1:p.Arg119ProfsTer4
XM_017023671.1:c.1247_1362del	XP_016879160.1:p.Arg416ProfsTer4
XM_017023672.2:c.1241_1356del	XP_016879161.1:p.Arg414ProfsTer4
XM_017023673.2:c.1241_1356del	XP_016879162.1:p.Arg414ProfsTer4
NM_024675.4:c.1241_1356del MANE Select	NP_078951.2:p.Arg414ProfsTer4