Canonical Allele Identifier: CA915949153

Gene: PALB2

Linked Data

• ClinVar Variation Id: 823918
• ClinVar RCV Id: RCV001020590 ; RCV001229333
• dbSNP Id: rs1597061743
• gnomAD v4: 16-23603468-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603469del , CM000678.2:g.23603469del	GRCh38
NC_000016.9:g.23614790del , CM000678.1:g.23614790del	GRCh37
NC_000016.8:g.23522291del	NCBI36
NG_007406.1:g.42889del , LRG_308:g.42889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3557del	ENSP00000460666.3:p.His1186ProfsTer7
ENST00000565038.2:c.*1036del	ENSP00000459882.2:n.*1036del
ENST00000566069.6:c.*186del	ENSP00000459237.2:n.*186del
ENST00000697377.2:c.3395del	ENSP00000513286.2:p.His1132ProfsTer7
ENST00000697379.2:c.3557del	ENSP00000513287.2:p.His1186ProfsTer7
ENST00000561514.2:c.2666del	ENSP00000460666.2:p.His889ProfsTer7
ENST00000697374.1:c.2666del	ENSP00000513284.1:p.His889ProfsTer7
ENST00000697375.1:n.4898del
ENST00000697376.1:c.*186del	ENSP00000513285.1:n.*186del
ENST00000697377.1:c.2504del	ENSP00000513286.1:p.His835ProfsTer7
ENST00000697378.1:n.4071del
ENST00000697379.1:c.2666del	ENSP00000513287.1:p.His889ProfsTer7
ENST00000697380.1:n.2755del
ENST00000697381.1:n.2246del
ENST00000697382.1:c.*328del	ENSP00000513288.1:n.*328del
ENST00000697383.1:c.1085del	ENSP00000513289.1:p.His362ProfsTer7
ENST00000261584.9:c.3551del MANE Select	ENSP00000261584.4:p.His1184ProfsTer7
ENST00000261584.8:c.3551del	ENSP00000261584.4:p.His1184ProfsTer7
ENST00000566069.5:c.317del
ENST00000568219.5:c.2666del	ENSP00000454703.2:p.His889ProfsTer7
NM_024675.3:c.3551del , LRG_308t1:c.3551del	NP_078951.2:p.His1184ProfsTer7
XM_011545946.1:c.3557del	XP_011544248.1:p.His1186ProfsTer7
XM_011545947.1:c.*186del	XP_011544249.1:n.*186del
XM_011545948.1:c.2666del	XP_011544250.1:p.His889ProfsTer7
XR_950851.1:n.4259del
XM_011545946.2:c.3557del	XP_011544248.1:p.His1186ProfsTer7
XM_011545947.2:c.*186del	XP_011544249.1:n.*186del
XM_011545948.2:c.2666del	XP_011544250.1:p.His889ProfsTer7
XM_017023671.1:c.3320del	XP_016879160.1:p.His1107ProfsTer7
XM_017023672.2:c.3314del	XP_016879161.1:p.His1105ProfsTer7
XM_017023673.2:c.*186del	XP_016879162.1:n.*186del
NM_024675.4:c.3551del MANE Select	NP_078951.2:p.His1184ProfsTer7