Canonical Allele Identifier: CA658658429

Gene: PALB2

Linked Data

• ClinVar Variation Id: 482034
• ClinVar RCV Id: RCV001344449
• dbSNP Id: rs1555461441
• MyVariant Identifiers: chr16:g.23646747_23646785del (hg19) ; chr16:g.23635426_23635464del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635427_23635465del , CM000678.2:g.23635427_23635465del	GRCh38
NC_000016.9:g.23646748_23646786del , CM000678.1:g.23646748_23646786del	GRCh37
NC_000016.8:g.23554249_23554287del	NCBI36
NG_007406.1:g.10894_10932del , LRG_308:g.10894_10932del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1088_1126del	ENSP00000460666.3:p.Thr363_Glu375del
ENST00000565038.2:c.211+2386_211+2424del	ENSP00000459882.2:n.211+2386_211+2424del
ENST00000566069.6:c.1082_1120del	ENSP00000459237.2:p.Thr361_Glu373del
ENST00000697377.2:c.1088_1126del	ENSP00000513286.2:p.Thr363_Glu375del
ENST00000697379.2:c.1088_1126del	ENSP00000513287.2:p.Thr363_Glu375del
ENST00000561514.2:c.197_235del	ENSP00000460666.2:p.Thr66_Glu78del
ENST00000697374.1:c.197_235del	ENSP00000513284.1:p.Thr66_Glu78del
ENST00000697375.1:n.2429_2467del
ENST00000697376.1:c.197_235del	ENSP00000513285.1:p.Thr66_Glu78del
ENST00000697377.1:c.197_235del	ENSP00000513286.1:p.Thr66_Glu78del
ENST00000697378.1:n.1602_1640del
ENST00000697379.1:c.197_235del	ENSP00000513287.1:p.Thr66_Glu78del
ENST00000697382.1:c.197_235del	ENSP00000513288.1:p.Thr66_Glu78del
ENST00000697383.1:c.48+5646_48+5684del	ENSP00000513289.1:n.48+5646_48+5684del
ENST00000697384.1:n.1236_1274del
ENST00000261584.9:c.1082_1120del MANE Select	ENSP00000261584.4:p.Thr361_Glu373del
ENST00000261584.8:c.1082_1120del	ENSP00000261584.4:p.Thr361_Glu373del
ENST00000565038.1:c.86+2386_86+2424del
ENST00000568219.5:c.197_235del	ENSP00000454703.2:p.Thr66_Glu78del
NM_024675.3:c.1082_1120del , LRG_308t1:c.1082_1120del	NP_078951.2:p.Thr361_Glu373del
XM_011545946.1:c.1088_1126del	XP_011544248.1:p.Thr363_Glu375del
XM_011545947.1:c.1088_1126del	XP_011544249.1:p.Thr363_Glu375del
XM_011545948.1:c.197_235del	XP_011544250.1:p.Thr66_Glu78del
XR_950851.1:n.1878_1916del
XM_011545946.2:c.1088_1126del	XP_011544248.1:p.Thr363_Glu375del
XM_011545947.2:c.1088_1126del	XP_011544249.1:p.Thr363_Glu375del
XM_011545948.2:c.197_235del	XP_011544250.1:p.Thr66_Glu78del
XM_017023671.1:c.1088_1126del	XP_016879160.1:p.Thr363_Glu375del
XM_017023672.2:c.1082_1120del	XP_016879161.1:p.Thr361_Glu373del
XM_017023673.2:c.1082_1120del	XP_016879162.1:p.Thr361_Glu373del
NM_024675.4:c.1082_1120del MANE Select	NP_078951.2:p.Thr361_Glu373del