Canonical Allele Identifier: CA2580091318

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2034582
• ClinVar RCV Id: RCV002867996

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629678_23629679dup , CM000678.2:g.23629678_23629679dup	GRCh38
NC_000016.9:g.23640999_23641000dup , CM000678.1:g.23640999_23641000dup	GRCh37
NC_000016.8:g.23548500_23548501dup	NCBI36
NG_007406.1:g.16680_16681dup , LRG_308:g.16680_16681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2482_2483dup	ENSP00000460666.3:p.Asn828LysfsTer26
ENST00000565038.2:c.212-403_212-402dup	ENSP00000459882.2:n.212-403_212-402dup
ENST00000566069.6:c.2476_2477dup	ENSP00000459237.2:p.Asn826LysfsTer26
ENST00000697377.2:c.2482_2483dup	ENSP00000513286.2:p.Asn828LysfsTer26
ENST00000697379.2:c.2482_2483dup	ENSP00000513287.2:p.Asn828LysfsTer26
ENST00000561514.2:c.1591_1592dup	ENSP00000460666.2:p.Asn531LysfsTer26
ENST00000697374.1:c.1591_1592dup	ENSP00000513284.1:p.Asn531LysfsTer26
ENST00000697375.1:n.3823_3824dup
ENST00000697376.1:c.1591_1592dup	ENSP00000513285.1:p.Asn531LysfsTer26
ENST00000697377.1:c.1591_1592dup	ENSP00000513286.1:p.Asn531LysfsTer26
ENST00000697378.1:n.2996_2997dup
ENST00000697379.1:c.1591_1592dup	ENSP00000513287.1:p.Asn531LysfsTer26
ENST00000697380.1:n.1404_1405dup
ENST00000697381.1:n.1171_1172dup
ENST00000697382.1:c.1591_1592dup	ENSP00000513288.1:p.Asn531LysfsTer26
ENST00000697383.1:c.49-403_49-402dup	ENSP00000513289.1:n.49-403_49-402dup
ENST00000697384.1:n.2630_2631dup
ENST00000261584.9:c.2476_2477dup MANE Select	ENSP00000261584.4:p.Asn826LysfsTer26
ENST00000261584.8:c.2476_2477dup	ENSP00000261584.4:p.Asn826LysfsTer26
ENST00000565038.1:c.87-403_87-402dup
ENST00000568219.5:c.1591_1592dup	ENSP00000454703.2:p.Asn531LysfsTer26
NM_024675.3:c.2476_2477dup , LRG_308t1:c.2476_2477dup	NP_078951.2:p.Asn826LysfsTer26
XM_011545946.1:c.2482_2483dup	XP_011544248.1:p.Asn828LysfsTer26
XM_011545947.1:c.2482_2483dup	XP_011544249.1:p.Asn828LysfsTer26
XM_011545948.1:c.1591_1592dup	XP_011544250.1:p.Asn531LysfsTer26
XR_950851.1:n.3272_3273dup
XM_011545946.2:c.2482_2483dup	XP_011544248.1:p.Asn828LysfsTer26
XM_011545947.2:c.2482_2483dup	XP_011544249.1:p.Asn828LysfsTer26
XM_011545948.2:c.1591_1592dup	XP_011544250.1:p.Asn531LysfsTer26
XM_017023671.1:c.2482_2483dup	XP_016879160.1:p.Asn828LysfsTer26
XM_017023672.2:c.2476_2477dup	XP_016879161.1:p.Asn826LysfsTer26
XM_017023673.2:c.2476_2477dup	XP_016879162.1:p.Asn826LysfsTer26
NM_024675.4:c.2476_2477dup MANE Select	NP_078951.2:p.Asn826LysfsTer26