Canonical Allele Identifier: CA658658396

Gene: PALB2

Linked Data

• ClinVar Variation Id: 486018
• ClinVar RCV Id: RCV000569592 ; RCV000657531 ; RCV000699114
• dbSNP Id: rs1555459540
• MyVariant Identifiers: chr16:g.23634348del (hg19) ; chr16:g.23623027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623027del , CM000678.2:g.23623027del	GRCh38
NC_000016.9:g.23634348del , CM000678.1:g.23634348del	GRCh37
NC_000016.8:g.23541849del	NCBI36
NG_007406.1:g.23331del , LRG_308:g.23331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2944del	ENSP00000460666.3:p.Ser982AlafsTer10
ENST00000565038.2:c.*419del	ENSP00000459882.2:n.*419del
ENST00000566069.6:c.2938del	ENSP00000459237.2:p.Ser980AlafsTer10
ENST00000697377.2:c.2782del	ENSP00000513286.2:p.Ser928AlafsTer10
ENST00000697379.2:c.2944del	ENSP00000513287.2:p.Ser982AlafsTer10
ENST00000561514.2:c.2053del	ENSP00000460666.2:p.Ser685AlafsTer10
ENST00000697374.1:c.2053del	ENSP00000513284.1:p.Ser685AlafsTer10
ENST00000697375.1:n.4285del
ENST00000697376.1:c.2053del	ENSP00000513285.1:p.Ser685AlafsTer10
ENST00000697377.1:c.1891del	ENSP00000513286.1:p.Ser631AlafsTer10
ENST00000697378.1:n.3458del
ENST00000697379.1:c.2053del	ENSP00000513287.1:p.Ser685AlafsTer10
ENST00000697380.1:n.2230del
ENST00000697381.1:n.1633del
ENST00000697382.1:c.2053del	ENSP00000513288.1:p.Ser685AlafsTer10
ENST00000697383.1:c.472del	ENSP00000513289.1:p.Ser158AlafsTer10
ENST00000261584.9:c.2938del MANE Select	ENSP00000261584.4:p.Ser980AlafsTer10
ENST00000261584.8:c.2938del	ENSP00000261584.4:p.Ser980AlafsTer10
ENST00000568219.5:c.2053del	ENSP00000454703.2:p.Ser685AlafsTer10
NM_024675.3:c.2938del , LRG_308t1:c.2938del	NP_078951.2:p.Ser980AlafsTer10
XM_011545946.1:c.2944del	XP_011544248.1:p.Ser982AlafsTer10
XM_011545947.1:c.2944del	XP_011544249.1:p.Ser982AlafsTer10
XM_011545948.1:c.2053del	XP_011544250.1:p.Ser685AlafsTer10
XR_950851.1:n.3734del
XM_011545946.2:c.2944del	XP_011544248.1:p.Ser982AlafsTer10
XM_011545947.2:c.2944del	XP_011544249.1:p.Ser982AlafsTer10
XM_011545948.2:c.2053del	XP_011544250.1:p.Ser685AlafsTer10
XM_017023671.1:c.2944del	XP_016879160.1:p.Ser982AlafsTer10
XM_017023672.2:c.2938del	XP_016879161.1:p.Ser980AlafsTer10
XM_017023673.2:c.2938del	XP_016879162.1:p.Ser980AlafsTer10
NM_024675.4:c.2938del MANE Select	NP_078951.2:p.Ser980AlafsTer10