Canonical Allele Identifier: CA1139664626

Gene: PALB2

Linked Data

• ClinVar Variation Id: 949114
• ClinVar RCV Id: RCV001220506
• dbSNP Id: rs1967055062

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636229del , CM000678.2:g.23636229del	GRCh38
NC_000016.9:g.23647550del , CM000678.1:g.23647550del	GRCh37
NC_000016.8:g.23555051del	NCBI36
NG_007406.1:g.10130del , LRG_308:g.10130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.324del	ENSP00000460666.3:p.Phe109LeufsTer?
ENST00000565038.2:c.211+1622del	ENSP00000459882.2:n.211+1622del
ENST00000566069.6:c.318del	ENSP00000459237.2:p.Phe107LeufsTer?
ENST00000697377.2:c.324del	ENSP00000513286.2:p.Phe109LeufsTer?
ENST00000697379.2:c.324del	ENSP00000513287.2:p.Phe109LeufsTer?
ENST00000561514.2:c.-568del	ENSP00000460666.2:n.-568del
ENST00000697374.1:c.-568del	ENSP00000513284.1:n.-568del
ENST00000697375.1:n.1665del
ENST00000697376.1:c.-568del	ENSP00000513285.1:n.-568del
ENST00000697377.1:c.-568del	ENSP00000513286.1:n.-568del
ENST00000697378.1:n.838del
ENST00000697379.1:c.-568del	ENSP00000513287.1:n.-568del
ENST00000697382.1:c.-568del	ENSP00000513288.1:n.-568del
ENST00000697383.1:c.48+4882del	ENSP00000513289.1:n.48+4882del
ENST00000697384.1:n.472del
ENST00000261584.9:c.318del MANE Select	ENSP00000261584.4:p.Phe107LeufsTer?
ENST00000261584.8:c.318del	ENSP00000261584.4:p.Phe107LeufsTer?
ENST00000565038.1:c.86+1622del
ENST00000567003.1:n.596del
ENST00000568219.5:c.-568del	ENSP00000454703.2:n.-568del
NM_024675.3:c.318del , LRG_308t1:c.318del	NP_078951.2:p.Phe107LeufsTer?
XM_011545946.1:c.324del	XP_011544248.1:p.Phe109LeufsTer?
XM_011545947.1:c.324del	XP_011544249.1:p.Phe109LeufsTer?
XM_011545948.1:c.-568del	XP_011544250.1:n.-568del
XR_950851.1:n.1114del
XM_011545946.2:c.324del	XP_011544248.1:p.Phe109LeufsTer?
XM_011545947.2:c.324del	XP_011544249.1:p.Phe109LeufsTer?
XM_011545948.2:c.-568del	XP_011544250.1:n.-568del
XM_017023671.1:c.324del	XP_016879160.1:p.Phe109LeufsTer?
XM_017023672.2:c.318del	XP_016879161.1:p.Phe107LeufsTer?
XM_017023673.2:c.318del	XP_016879162.1:p.Phe107LeufsTer?
NM_024675.4:c.318del MANE Select	NP_078951.2:p.Phe107LeufsTer?