Canonical Allele Identifier: CA168666

Gene: PALB2

Linked Data

• ClinVar Variation Id: 142540
• ClinVar RCV Id: RCV000131730 ; RCV000485597 ; RCV000635615 ; RCV001355806
• dbSNP Id: rs587782531
• MyVariant Identifiers: chr16:g.23647205_23647206delinsTA (hg19) ; chr16:g.23635884_23635885delinsTA (hg38)
• PubMed: PMID:24136930

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635884_23635885delinsTA , CM000678.2:g.23635884_23635885delinsTA	GRCh38
NC_000016.9:g.23647205_23647206delinsTA , CM000678.1:g.23647205_23647206delinsTA	GRCh37
NC_000016.8:g.23554706_23554707delinsTA	NCBI36
NG_007406.1:g.10473_10474delinsTA , LRG_308:g.10473_10474delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.667_668delinsTA	ENSP00000460666.3:p.Val223Ter
ENST00000565038.2:c.211+1965_211+1966delinsTA	ENSP00000459882.2:n.211+1965_211+1966delinsTA
ENST00000566069.6:c.661_662delinsTA	ENSP00000459237.2:p.Val221Ter
ENST00000697377.2:c.667_668delinsTA	ENSP00000513286.2:p.Val223Ter
ENST00000697379.2:c.667_668delinsTA	ENSP00000513287.2:p.Val223Ter
ENST00000561514.2:c.-225_-224delinsTA	ENSP00000460666.2:n.-225_-224delinsTA
ENST00000697374.1:c.-225_-224delinsTA	ENSP00000513284.1:n.-225_-224delinsTA
ENST00000697375.1:n.2008_2009delinsTA
ENST00000697376.1:c.-225_-224delinsTA	ENSP00000513285.1:n.-225_-224delinsTA
ENST00000697377.1:c.-225_-224delinsTA	ENSP00000513286.1:n.-225_-224delinsTA
ENST00000697378.1:n.1181_1182delinsTA
ENST00000697379.1:c.-225_-224delinsTA	ENSP00000513287.1:n.-225_-224delinsTA
ENST00000697382.1:c.-225_-224delinsTA	ENSP00000513288.1:n.-225_-224delinsTA
ENST00000697383.1:c.48+5225_48+5226delinsTA	ENSP00000513289.1:n.48+5225_48+5226delinsTA
ENST00000697384.1:n.815_816delinsTA
ENST00000261584.9:c.661_662delinsTA MANE Select	ENSP00000261584.4:p.Val221Ter
ENST00000261584.8:c.661_662delinsTA	ENSP00000261584.4:p.Val221Ter
ENST00000565038.1:c.86+1965_86+1966delinsTA
ENST00000568219.5:c.-225_-224delinsTA	ENSP00000454703.2:n.-225_-224delinsTA
NM_024675.3:c.661_662delinsTA , LRG_308t1:c.661_662delinsTA	NP_078951.2:p.Val221Ter
XM_011545946.1:c.667_668delinsTA	XP_011544248.1:p.Val223Ter
XM_011545947.1:c.667_668delinsTA	XP_011544249.1:p.Val223Ter
XM_011545948.1:c.-225_-224delinsTA	XP_011544250.1:n.-225_-224delinsTA
XR_950851.1:n.1457_1458delinsTA
XM_011545946.2:c.667_668delinsTA	XP_011544248.1:p.Val223Ter
XM_011545947.2:c.667_668delinsTA	XP_011544249.1:p.Val223Ter
XM_011545948.2:c.-225_-224delinsTA	XP_011544250.1:n.-225_-224delinsTA
XM_017023671.1:c.667_668delinsTA	XP_016879160.1:p.Val223Ter
XM_017023672.2:c.661_662delinsTA	XP_016879161.1:p.Val221Ter
XM_017023673.2:c.661_662delinsTA	XP_016879162.1:p.Val221Ter
NM_024675.4:c.661_662delinsTA MANE Select	NP_078951.2:p.Val221Ter