Canonical Allele Identifier: CA915949169

Gene: PALB2

Linked Data

• ClinVar Variation Id: 822351
• ClinVar RCV Id: RCV001017636 ; RCV001213465
• dbSNP Id: rs1597081202

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623014del , CM000678.2:g.23623014del	GRCh38
NC_000016.9:g.23634335del , CM000678.1:g.23634335del	GRCh37
NC_000016.8:g.23541836del	NCBI36
NG_007406.1:g.23346del , LRG_308:g.23346del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2959del	ENSP00000460666.3:p.Ser987LeufsTer5
ENST00000565038.2:c.*434del	ENSP00000459882.2:n.*434del
ENST00000566069.6:c.2953del	ENSP00000459237.2:p.Ser985LeufsTer5
ENST00000697377.2:c.2797del	ENSP00000513286.2:p.Ser933LeufsTer5
ENST00000697379.2:c.2959del	ENSP00000513287.2:p.Ser987LeufsTer5
ENST00000561514.2:c.2068del	ENSP00000460666.2:p.Ser690LeufsTer5
ENST00000697374.1:c.2068del	ENSP00000513284.1:p.Ser690LeufsTer5
ENST00000697375.1:n.4300del
ENST00000697376.1:c.2068del	ENSP00000513285.1:p.Ser690LeufsTer5
ENST00000697377.1:c.1906del	ENSP00000513286.1:p.Ser636LeufsTer5
ENST00000697378.1:n.3473del
ENST00000697379.1:c.2068del	ENSP00000513287.1:p.Ser690LeufsTer5
ENST00000697380.1:n.2245del
ENST00000697381.1:n.1648del
ENST00000697382.1:c.2068del	ENSP00000513288.1:p.Ser690LeufsTer5
ENST00000697383.1:c.487del	ENSP00000513289.1:p.Ser163LeufsTer5
ENST00000261584.9:c.2953del MANE Select	ENSP00000261584.4:p.Ser985LeufsTer5
ENST00000261584.8:c.2953del	ENSP00000261584.4:p.Ser985LeufsTer5
ENST00000568219.5:c.2068del	ENSP00000454703.2:p.Ser690LeufsTer5
NM_024675.3:c.2953del , LRG_308t1:c.2953del	NP_078951.2:p.Ser985LeufsTer5
XM_011545946.1:c.2959del	XP_011544248.1:p.Ser987LeufsTer5
XM_011545947.1:c.2959del	XP_011544249.1:p.Ser987LeufsTer5
XM_011545948.1:c.2068del	XP_011544250.1:p.Ser690LeufsTer5
XR_950851.1:n.3749del
XM_011545946.2:c.2959del	XP_011544248.1:p.Ser987LeufsTer5
XM_011545947.2:c.2959del	XP_011544249.1:p.Ser987LeufsTer5
XM_011545948.2:c.2068del	XP_011544250.1:p.Ser690LeufsTer5
XM_017023671.1:c.2959del	XP_016879160.1:p.Ser987LeufsTer5
XM_017023672.2:c.2953del	XP_016879161.1:p.Ser985LeufsTer5
XM_017023673.2:c.2953del	XP_016879162.1:p.Ser985LeufsTer5
NM_024675.4:c.2953del MANE Select	NP_078951.2:p.Ser985LeufsTer5