Canonical Allele Identifier: CA2580091329

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2453304
• ClinVar RCV Id: RCV003182759

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629781del , CM000678.2:g.23629781del	GRCh38
NC_000016.9:g.23641102del , CM000678.1:g.23641102del	GRCh37
NC_000016.8:g.23548603del	NCBI36
NG_007406.1:g.16577del , LRG_308:g.16577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2379del	ENSP00000460666.3:p.Ser794GlnfsTer?
ENST00000565038.2:c.212-506del	ENSP00000459882.2:n.212-506del
ENST00000566069.6:c.2373del	ENSP00000459237.2:p.Ser792GlnfsTer?
ENST00000697377.2:c.2379del	ENSP00000513286.2:p.Ser794GlnfsTer?
ENST00000697379.2:c.2379del	ENSP00000513287.2:p.Ser794GlnfsTer?
ENST00000561514.2:c.1488del	ENSP00000460666.2:p.Ser497GlnfsTer?
ENST00000697374.1:c.1488del	ENSP00000513284.1:p.Ser497GlnfsTer?
ENST00000697375.1:n.3720del
ENST00000697376.1:c.1488del	ENSP00000513285.1:p.Ser497GlnfsTer?
ENST00000697377.1:c.1488del	ENSP00000513286.1:p.Ser497GlnfsTer?
ENST00000697378.1:n.2893del
ENST00000697379.1:c.1488del	ENSP00000513287.1:p.Ser497GlnfsTer?
ENST00000697380.1:n.1301del
ENST00000697381.1:n.1068del
ENST00000697382.1:c.1488del	ENSP00000513288.1:p.Ser497GlnfsTer?
ENST00000697383.1:c.49-506del	ENSP00000513289.1:n.49-506del
ENST00000697384.1:n.2527del
ENST00000261584.9:c.2373del MANE Select	ENSP00000261584.4:p.Ser792GlnfsTer?
ENST00000261584.8:c.2373del	ENSP00000261584.4:p.Ser792GlnfsTer?
ENST00000565038.1:c.87-506del
ENST00000568219.5:c.1488del	ENSP00000454703.2:p.Ser497GlnfsTer?
NM_024675.3:c.2373del , LRG_308t1:c.2373del	NP_078951.2:p.Ser792GlnfsTer?
XM_011545946.1:c.2379del	XP_011544248.1:p.Ser794GlnfsTer?
XM_011545947.1:c.2379del	XP_011544249.1:p.Ser794GlnfsTer?
XM_011545948.1:c.1488del	XP_011544250.1:p.Ser497GlnfsTer?
XR_950851.1:n.3169del
XM_011545946.2:c.2379del	XP_011544248.1:p.Ser794GlnfsTer?
XM_011545947.2:c.2379del	XP_011544249.1:p.Ser794GlnfsTer?
XM_011545948.2:c.1488del	XP_011544250.1:p.Ser497GlnfsTer?
XM_017023671.1:c.2379del	XP_016879160.1:p.Ser794GlnfsTer?
XM_017023672.2:c.2373del	XP_016879161.1:p.Ser792GlnfsTer?
XM_017023673.2:c.2373del	XP_016879162.1:p.Ser792GlnfsTer?
NM_024675.4:c.2373del MANE Select	NP_078951.2:p.Ser792GlnfsTer?