Canonical Allele Identifier: CA2573152145

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1456789
• ClinVar RCV Id: RCV001972473
• dbSNP Id: rs2142252096

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603519_23603523del , CM000678.2:g.23603519_23603523del	GRCh38
NC_000016.9:g.23614840_23614844del , CM000678.1:g.23614840_23614844del	GRCh37
NC_000016.8:g.23522341_23522345del	NCBI36
NG_007406.1:g.42836_42840del , LRG_308:g.42836_42840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3504_3508del	ENSP00000460666.3:p.Thr1169LeufsTer21
ENST00000565038.2:c.*983_*987del	ENSP00000459882.2:n.*983_*987del
ENST00000566069.6:c.*133_*137del	ENSP00000459237.2:n.*133_*137del
ENST00000697377.2:c.3342_3346del	ENSP00000513286.2:p.Thr1115LeufsTer21
ENST00000697379.2:c.3504_3508del	ENSP00000513287.2:p.Thr1169LeufsTer21
ENST00000561514.2:c.2613_2617del	ENSP00000460666.2:p.Thr872LeufsTer21
ENST00000697374.1:c.2613_2617del	ENSP00000513284.1:p.Thr872LeufsTer21
ENST00000697375.1:n.4845_4849del
ENST00000697376.1:c.*133_*137del	ENSP00000513285.1:n.*133_*137del
ENST00000697377.1:c.2451_2455del	ENSP00000513286.1:p.Thr818LeufsTer21
ENST00000697378.1:n.4018_4022del
ENST00000697379.1:c.2613_2617del	ENSP00000513287.1:p.Thr872LeufsTer21
ENST00000697380.1:n.2702_2706del
ENST00000697381.1:n.2193_2197del
ENST00000697382.1:c.*275_*279del	ENSP00000513288.1:n.*275_*279del
ENST00000697383.1:c.1032_1036del	ENSP00000513289.1:p.Thr345LeufsTer21
ENST00000261584.9:c.3498_3502del MANE Select	ENSP00000261584.4:p.Thr1167LeufsTer21
ENST00000261584.8:c.3498_3502del	ENSP00000261584.4:p.Thr1167LeufsTer21
ENST00000566069.5:c.264_268del
ENST00000568219.5:c.2613_2617del	ENSP00000454703.2:p.Thr872LeufsTer21
NM_024675.3:c.3498_3502del , LRG_308t1:c.3498_3502del	NP_078951.2:p.Thr1167LeufsTer21
XM_011545946.1:c.3504_3508del	XP_011544248.1:p.Thr1169LeufsTer21
XM_011545947.1:c.*133_*137del	XP_011544249.1:n.*133_*137del
XM_011545948.1:c.2613_2617del	XP_011544250.1:p.Thr872LeufsTer21
XR_950851.1:n.4206_4210del
XM_011545946.2:c.3504_3508del	XP_011544248.1:p.Thr1169LeufsTer21
XM_011545947.2:c.*133_*137del	XP_011544249.1:n.*133_*137del
XM_011545948.2:c.2613_2617del	XP_011544250.1:p.Thr872LeufsTer21
XM_017023671.1:c.3267_3271del	XP_016879160.1:p.Thr1090LeufsTer21
XM_017023672.2:c.3261_3265del	XP_016879161.1:p.Thr1088LeufsTer21
XM_017023673.2:c.*133_*137del	XP_016879162.1:n.*133_*137del
NM_024675.4:c.3498_3502del MANE Select	NP_078951.2:p.Thr1167LeufsTer21