Canonical Allele Identifier: CA658658421

Gene: PALB2

Linked Data

• ClinVar Variation Id: 460897
• ClinVar RCV Id: RCV000527507 ; RCV000567362 ; RCV003483659
• dbSNP Id: rs1555461253
• MyVariant Identifiers: chr16:g.23646377del (hg19) ; chr16:g.23635056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635057del , CM000678.2:g.23635057del	GRCh38
NC_000016.9:g.23646378del , CM000678.1:g.23646378del	GRCh37
NC_000016.8:g.23553879del	NCBI36
NG_007406.1:g.11302del , LRG_308:g.11302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1496del	ENSP00000460666.3:p.Asn499MetfsTer?
ENST00000565038.2:c.211+2794del	ENSP00000459882.2:n.211+2794del
ENST00000566069.6:c.1490del	ENSP00000459237.2:p.Asn497MetfsTer?
ENST00000697377.2:c.1496del	ENSP00000513286.2:p.Asn499MetfsTer?
ENST00000697379.2:c.1496del	ENSP00000513287.2:p.Asn499MetfsTer?
ENST00000561514.2:c.605del	ENSP00000460666.2:p.Asn202MetfsTer?
ENST00000697374.1:c.605del	ENSP00000513284.1:p.Asn202MetfsTer?
ENST00000697375.1:n.2837del
ENST00000697376.1:c.605del	ENSP00000513285.1:p.Asn202MetfsTer?
ENST00000697377.1:c.605del	ENSP00000513286.1:p.Asn202MetfsTer?
ENST00000697378.1:n.2010del
ENST00000697379.1:c.605del	ENSP00000513287.1:p.Asn202MetfsTer?
ENST00000697382.1:c.605del	ENSP00000513288.1:p.Asn202MetfsTer?
ENST00000697383.1:c.49-5781del	ENSP00000513289.1:n.49-5781del
ENST00000697384.1:n.1644del
ENST00000261584.9:c.1490del MANE Select	ENSP00000261584.4:p.Asn497MetfsTer?
ENST00000261584.8:c.1490del	ENSP00000261584.4:p.Asn497MetfsTer?
ENST00000565038.1:c.86+2794del
ENST00000568219.5:c.605del	ENSP00000454703.2:p.Asn202MetfsTer?
NM_024675.3:c.1490del , LRG_308t1:c.1490del	NP_078951.2:p.Asn497MetfsTer?
XM_011545946.1:c.1496del	XP_011544248.1:p.Asn499MetfsTer?
XM_011545947.1:c.1496del	XP_011544249.1:p.Asn499MetfsTer?
XM_011545948.1:c.605del	XP_011544250.1:p.Asn202MetfsTer?
XR_950851.1:n.2286del
XM_011545946.2:c.1496del	XP_011544248.1:p.Asn499MetfsTer?
XM_011545947.2:c.1496del	XP_011544249.1:p.Asn499MetfsTer?
XM_011545948.2:c.605del	XP_011544250.1:p.Asn202MetfsTer?
XM_017023671.1:c.1496del	XP_016879160.1:p.Asn499MetfsTer?
XM_017023672.2:c.1490del	XP_016879161.1:p.Asn497MetfsTer?
XM_017023673.2:c.1490del	XP_016879162.1:p.Asn497MetfsTer?
NM_024675.4:c.1490del MANE Select	NP_078951.2:p.Asn497MetfsTer?