Canonical Allele Identifier: CA2580091298

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1792915
• ClinVar RCV Id: RCV003477007 ; RCV002434947 ; RCV003336740

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629241dup , CM000678.2:g.23629241dup	GRCh38
NC_000016.9:g.23640562dup , CM000678.1:g.23640562dup	GRCh37
NC_000016.8:g.23548063dup	NCBI36
NG_007406.1:g.17117dup , LRG_308:g.17117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2555dup	ENSP00000460666.3:p.Asn853LysfsTer?
ENST00000565038.2:c.*30dup	ENSP00000459882.2:n.*30dup
ENST00000566069.6:c.2549dup	ENSP00000459237.2:p.Asn851LysfsTer?
ENST00000697377.2:c.2555dup	ENSP00000513286.2:p.Asn853LysfsTer23
ENST00000697379.2:c.2555dup	ENSP00000513287.2:p.Asn853LysfsTer?
ENST00000561514.2:c.1664dup	ENSP00000460666.2:p.Asn556LysfsTer?
ENST00000697374.1:c.1664dup	ENSP00000513284.1:p.Asn556LysfsTer?
ENST00000697375.1:n.3896dup
ENST00000697376.1:c.1664dup	ENSP00000513285.1:p.Asn556LysfsTer?
ENST00000697377.1:c.1664dup	ENSP00000513286.1:p.Asn556LysfsTer23
ENST00000697378.1:n.3069dup
ENST00000697379.1:c.1664dup	ENSP00000513287.1:p.Asn556LysfsTer?
ENST00000697380.1:n.1841dup
ENST00000697381.1:n.1244dup
ENST00000697382.1:c.1664dup	ENSP00000513288.1:p.Asn556LysfsTer?
ENST00000697383.1:c.83dup	ENSP00000513289.1:p.Asn29LysfsTer?
ENST00000697384.1:n.2703dup
ENST00000261584.9:c.2549dup MANE Select	ENSP00000261584.4:p.Asn851LysfsTer?
ENST00000261584.8:c.2549dup	ENSP00000261584.4:p.Asn851LysfsTer?
ENST00000565038.1:c.121dup
ENST00000568219.5:c.1664dup	ENSP00000454703.2:p.Asn556LysfsTer?
NM_024675.3:c.2549dup , LRG_308t1:c.2549dup	NP_078951.2:p.Asn851LysfsTer?
XM_011545946.1:c.2555dup	XP_011544248.1:p.Asn853LysfsTer?
XM_011545947.1:c.2555dup	XP_011544249.1:p.Asn853LysfsTer?
XM_011545948.1:c.1664dup	XP_011544250.1:p.Asn556LysfsTer?
XR_950851.1:n.3345dup
XM_011545946.2:c.2555dup	XP_011544248.1:p.Asn853LysfsTer?
XM_011545947.2:c.2555dup	XP_011544249.1:p.Asn853LysfsTer?
XM_011545948.2:c.1664dup	XP_011544250.1:p.Asn556LysfsTer?
XM_017023671.1:c.2555dup	XP_016879160.1:p.Asn853LysfsTer?
XM_017023672.2:c.2549dup	XP_016879161.1:p.Asn851LysfsTer?
XM_017023673.2:c.2549dup	XP_016879162.1:p.Asn851LysfsTer?
NM_024675.4:c.2549dup MANE Select	NP_078951.2:p.Asn851LysfsTer?