Canonical Allele Identifier: CA2695197609

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674114
• ClinVar RCV Id: RCV003452310

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624085dup , CM000678.2:g.23624085dup	GRCh38
NC_000016.9:g.23635406dup , CM000678.1:g.23635406dup	GRCh37
NC_000016.8:g.23542907dup	NCBI36
NG_007406.1:g.22274dup , LRG_308:g.22274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2765dup	ENSP00000460666.3:p.Leu922PhefsTer8
ENST00000565038.2:c.*240dup	ENSP00000459882.2:n.*240dup
ENST00000566069.6:c.2759dup	ENSP00000459237.2:p.Leu920PhefsTer8
ENST00000697377.2:c.2603dup	ENSP00000513286.2:p.Leu868PhefsTer8
ENST00000697379.2:c.2765dup	ENSP00000513287.2:p.Leu922PhefsTer8
ENST00000561514.2:c.1874dup	ENSP00000460666.2:p.Leu625PhefsTer8
ENST00000697374.1:c.1874dup	ENSP00000513284.1:p.Leu625PhefsTer8
ENST00000697375.1:n.4106dup
ENST00000697376.1:c.1874dup	ENSP00000513285.1:p.Leu625PhefsTer8
ENST00000697377.1:c.1712dup	ENSP00000513286.1:p.Leu571PhefsTer8
ENST00000697378.1:n.3279dup
ENST00000697379.1:c.1874dup	ENSP00000513287.1:p.Leu625PhefsTer8
ENST00000697380.1:n.2051dup
ENST00000697381.1:n.1454dup
ENST00000697382.1:c.1874dup	ENSP00000513288.1:p.Leu625PhefsTer8
ENST00000697383.1:c.293dup	ENSP00000513289.1:p.Leu98PhefsTer8
ENST00000261584.9:c.2759dup MANE Select	ENSP00000261584.4:p.Leu920PhefsTer8
ENST00000261584.8:c.2759dup	ENSP00000261584.4:p.Leu920PhefsTer8
ENST00000565038.1:c.331dup
ENST00000568219.5:c.1874dup	ENSP00000454703.2:p.Leu625PhefsTer8
NM_024675.3:c.2759dup , LRG_308t1:c.2759dup	NP_078951.2:p.Leu920PhefsTer8
XM_011545946.1:c.2765dup	XP_011544248.1:p.Leu922PhefsTer8
XM_011545947.1:c.2765dup	XP_011544249.1:p.Leu922PhefsTer8
XM_011545948.1:c.1874dup	XP_011544250.1:p.Leu625PhefsTer8
XR_950851.1:n.3555dup
XM_011545946.2:c.2765dup	XP_011544248.1:p.Leu922PhefsTer8
XM_011545947.2:c.2765dup	XP_011544249.1:p.Leu922PhefsTer8
XM_011545948.2:c.1874dup	XP_011544250.1:p.Leu625PhefsTer8
XM_017023671.1:c.2765dup	XP_016879160.1:p.Leu922PhefsTer8
XM_017023672.2:c.2759dup	XP_016879161.1:p.Leu920PhefsTer8
XM_017023673.2:c.2759dup	XP_016879162.1:p.Leu920PhefsTer8
NM_024675.4:c.2759dup MANE Select	NP_078951.2:p.Leu920PhefsTer8