Canonical Allele Identifier: CA2695197472

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2673846
• ClinVar RCV Id: RCV003450463 ; RCV004364753

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635103_23635104del , CM000678.2:g.23635103_23635104del	GRCh38
NC_000016.9:g.23646424_23646425del , CM000678.1:g.23646424_23646425del	GRCh37
NC_000016.8:g.23553925_23553926del	NCBI36
NG_007406.1:g.11254_11255del , LRG_308:g.11254_11255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1448_1449del	ENSP00000460666.3:p.Leu483ProfsTer5
ENST00000565038.2:c.211+2746_211+2747del	ENSP00000459882.2:n.211+2746_211+2747del
ENST00000566069.6:c.1442_1443del	ENSP00000459237.2:p.Leu481ProfsTer5
ENST00000697377.2:c.1448_1449del	ENSP00000513286.2:p.Leu483ProfsTer5
ENST00000697379.2:c.1448_1449del	ENSP00000513287.2:p.Leu483ProfsTer5
ENST00000561514.2:c.557_558del	ENSP00000460666.2:p.Leu186ProfsTer5
ENST00000697374.1:c.557_558del	ENSP00000513284.1:p.Leu186ProfsTer5
ENST00000697375.1:n.2789_2790del
ENST00000697376.1:c.557_558del	ENSP00000513285.1:p.Leu186ProfsTer5
ENST00000697377.1:c.557_558del	ENSP00000513286.1:p.Leu186ProfsTer5
ENST00000697378.1:n.1962_1963del
ENST00000697379.1:c.557_558del	ENSP00000513287.1:p.Leu186ProfsTer5
ENST00000697382.1:c.557_558del	ENSP00000513288.1:p.Leu186ProfsTer5
ENST00000697383.1:c.49-5829_49-5828del	ENSP00000513289.1:n.49-5829_49-5828del
ENST00000697384.1:n.1596_1597del
ENST00000261584.9:c.1442_1443del MANE Select	ENSP00000261584.4:p.Leu481ProfsTer5
ENST00000261584.8:c.1442_1443del	ENSP00000261584.4:p.Leu481ProfsTer5
ENST00000565038.1:c.86+2746_86+2747del
ENST00000568219.5:c.557_558del	ENSP00000454703.2:p.Leu186ProfsTer5
NM_024675.3:c.1442_1443del , LRG_308t1:c.1442_1443del	NP_078951.2:p.Leu481ProfsTer5
XM_011545946.1:c.1448_1449del	XP_011544248.1:p.Leu483ProfsTer5
XM_011545947.1:c.1448_1449del	XP_011544249.1:p.Leu483ProfsTer5
XM_011545948.1:c.557_558del	XP_011544250.1:p.Leu186ProfsTer5
XR_950851.1:n.2238_2239del
XM_011545946.2:c.1448_1449del	XP_011544248.1:p.Leu483ProfsTer5
XM_011545947.2:c.1448_1449del	XP_011544249.1:p.Leu483ProfsTer5
XM_011545948.2:c.557_558del	XP_011544250.1:p.Leu186ProfsTer5
XM_017023671.1:c.1448_1449del	XP_016879160.1:p.Leu483ProfsTer5
XM_017023672.2:c.1442_1443del	XP_016879161.1:p.Leu481ProfsTer5
XM_017023673.2:c.1442_1443del	XP_016879162.1:p.Leu481ProfsTer5
NM_024675.4:c.1442_1443del MANE Select	NP_078951.2:p.Leu481ProfsTer5