Canonical Allele Identifier: CA916081807

Gene: PALB2

Linked Data

• ClinVar Variation Id: 863876
• ClinVar RCV Id: RCV001070945
• dbSNP Id: rs1966637056

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614079del , CM000678.2:g.23614079del	GRCh38
NC_000016.9:g.23625400del , CM000678.1:g.23625400del	GRCh37
NC_000016.8:g.23532901del	NCBI36
NG_007406.1:g.32279del , LRG_308:g.32279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3132del	ENSP00000460666.3:p.Gly1045ValfsTer4
ENST00000565038.2:c.*607del	ENSP00000459882.2:n.*607del
ENST00000566069.6:c.3126del	ENSP00000459237.2:p.Gly1043ValfsTer4
ENST00000697377.2:c.2970del	ENSP00000513286.2:p.Gly991ValfsTer4
ENST00000697379.2:c.3132del	ENSP00000513287.2:p.Gly1045ValfsTer4
ENST00000561514.2:c.2241del	ENSP00000460666.2:p.Gly748ValfsTer4
ENST00000697374.1:c.2241del	ENSP00000513284.1:p.Gly748ValfsTer4
ENST00000697375.1:n.4473del
ENST00000697376.1:c.2241del	ENSP00000513285.1:p.Gly748ValfsTer4
ENST00000697377.1:c.2079del	ENSP00000513286.1:p.Gly694ValfsTer4
ENST00000697378.1:n.3646del
ENST00000697379.1:c.2241del	ENSP00000513287.1:p.Gly748ValfsTer4
ENST00000697380.1:n.2406-6067del
ENST00000697381.1:n.1821del
ENST00000697382.1:c.2229-6067del	ENSP00000513288.1:n.2229-6067del
ENST00000697383.1:c.660del	ENSP00000513289.1:p.Gly221ValfsTer4
ENST00000261584.9:c.3126del MANE Select	ENSP00000261584.4:p.Gly1043ValfsTer4
ENST00000261584.8:c.3126del	ENSP00000261584.4:p.Gly1043ValfsTer4
ENST00000566069.5:c.41del
ENST00000568219.5:c.2241del	ENSP00000454703.2:p.Gly748ValfsTer4
NM_024675.3:c.3126del , LRG_308t1:c.3126del	NP_078951.2:p.Gly1043ValfsTer4
XM_011545946.1:c.3132del	XP_011544248.1:p.Gly1045ValfsTer4
XM_011545947.1:c.3132del	XP_011544249.1:p.Gly1045ValfsTer4
XM_011545948.1:c.2241del	XP_011544250.1:p.Gly748ValfsTer4
XR_950851.1:n.3910-6067del
XM_011545946.2:c.3132del	XP_011544248.1:p.Gly1045ValfsTer4
XM_011545947.2:c.3132del	XP_011544249.1:p.Gly1045ValfsTer4
XM_011545948.2:c.2241del	XP_011544250.1:p.Gly748ValfsTer4
XM_017023671.1:c.3119+7283del	XP_016879160.1:n.3119+7283del
XM_017023672.2:c.3113+7283del	XP_016879161.1:n.3113+7283del
XM_017023673.2:c.3126del	XP_016879162.1:p.Gly1043ValfsTer4
NM_024675.4:c.3126del MANE Select	NP_078951.2:p.Gly1043ValfsTer4