Canonical Allele Identifier: CA1139664600

Gene: PALB2

Linked Data

• ClinVar Variation Id: 963575
• ClinVar RCV Id: RCV001237618
• dbSNP Id: rs1966865368

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630330dup , CM000678.2:g.23630330dup	GRCh38
NC_000016.9:g.23641651dup , CM000678.1:g.23641651dup	GRCh37
NC_000016.8:g.23549152dup	NCBI36
NG_007406.1:g.16028dup , LRG_308:g.16028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1830dup	ENSP00000460666.3:p.Ile611TyrfsTer8
ENST00000565038.2:c.212-1055dup	ENSP00000459882.2:n.212-1055dup
ENST00000566069.6:c.1824dup	ENSP00000459237.2:p.Ile609TyrfsTer8
ENST00000697377.2:c.1830dup	ENSP00000513286.2:p.Ile611TyrfsTer8
ENST00000697379.2:c.1830dup	ENSP00000513287.2:p.Ile611TyrfsTer8
ENST00000561514.2:c.939dup	ENSP00000460666.2:p.Ile314TyrfsTer8
ENST00000697374.1:c.939dup	ENSP00000513284.1:p.Ile314TyrfsTer8
ENST00000697375.1:n.3171dup
ENST00000697376.1:c.939dup	ENSP00000513285.1:p.Ile314TyrfsTer8
ENST00000697377.1:c.939dup	ENSP00000513286.1:p.Ile314TyrfsTer8
ENST00000697378.1:n.2344dup
ENST00000697379.1:c.939dup	ENSP00000513287.1:p.Ile314TyrfsTer8
ENST00000697380.1:n.752dup
ENST00000697381.1:n.519dup
ENST00000697382.1:c.939dup	ENSP00000513288.1:p.Ile314TyrfsTer8
ENST00000697383.1:c.49-1055dup	ENSP00000513289.1:n.49-1055dup
ENST00000697384.1:n.1978dup
ENST00000261584.9:c.1824dup MANE Select	ENSP00000261584.4:p.Ile609TyrfsTer8
ENST00000261584.8:c.1824dup	ENSP00000261584.4:p.Ile609TyrfsTer8
ENST00000565038.1:c.87-1055dup
ENST00000568219.5:c.939dup	ENSP00000454703.2:p.Ile314TyrfsTer8
NM_024675.3:c.1824dup , LRG_308t1:c.1824dup	NP_078951.2:p.Ile609TyrfsTer8
XM_011545946.1:c.1830dup	XP_011544248.1:p.Ile611TyrfsTer8
XM_011545947.1:c.1830dup	XP_011544249.1:p.Ile611TyrfsTer8
XM_011545948.1:c.939dup	XP_011544250.1:p.Ile314TyrfsTer8
XR_950851.1:n.2620dup
XM_011545946.2:c.1830dup	XP_011544248.1:p.Ile611TyrfsTer8
XM_011545947.2:c.1830dup	XP_011544249.1:p.Ile611TyrfsTer8
XM_011545948.2:c.939dup	XP_011544250.1:p.Ile314TyrfsTer8
XM_017023671.1:c.1830dup	XP_016879160.1:p.Ile611TyrfsTer8
XM_017023672.2:c.1824dup	XP_016879161.1:p.Ile609TyrfsTer8
XM_017023673.2:c.1824dup	XP_016879162.1:p.Ile609TyrfsTer8
NM_024675.4:c.1824dup MANE Select	NP_078951.2:p.Ile609TyrfsTer8