Canonical Allele Identifier: CA2580091357

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1787681
• ClinVar RCV Id: RCV002425785 ; RCV003454335

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629949dup , CM000678.2:g.23629949dup	GRCh38
NC_000016.9:g.23641270dup , CM000678.1:g.23641270dup	GRCh37
NC_000016.8:g.23548771dup	NCBI36
NG_007406.1:g.16409dup , LRG_308:g.16409dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2211dup	ENSP00000460666.3:p.Ala738SerfsTer9
ENST00000565038.2:c.212-674dup	ENSP00000459882.2:n.212-674dup
ENST00000566069.6:c.2205dup	ENSP00000459237.2:p.Ala736SerfsTer9
ENST00000697377.2:c.2211dup	ENSP00000513286.2:p.Ala738SerfsTer9
ENST00000697379.2:c.2211dup	ENSP00000513287.2:p.Ala738SerfsTer9
ENST00000561514.2:c.1320dup	ENSP00000460666.2:p.Ala441SerfsTer9
ENST00000697374.1:c.1320dup	ENSP00000513284.1:p.Ala441SerfsTer9
ENST00000697375.1:n.3552dup
ENST00000697376.1:c.1320dup	ENSP00000513285.1:p.Ala441SerfsTer9
ENST00000697377.1:c.1320dup	ENSP00000513286.1:p.Ala441SerfsTer9
ENST00000697378.1:n.2725dup
ENST00000697379.1:c.1320dup	ENSP00000513287.1:p.Ala441SerfsTer9
ENST00000697380.1:n.1133dup
ENST00000697381.1:n.900dup
ENST00000697382.1:c.1320dup	ENSP00000513288.1:p.Ala441SerfsTer9
ENST00000697383.1:c.49-674dup	ENSP00000513289.1:n.49-674dup
ENST00000697384.1:n.2359dup
ENST00000261584.9:c.2205dup MANE Select	ENSP00000261584.4:p.Ala736SerfsTer9
ENST00000261584.8:c.2205dup	ENSP00000261584.4:p.Ala736SerfsTer9
ENST00000565038.1:c.87-674dup
ENST00000568219.5:c.1320dup	ENSP00000454703.2:p.Ala441SerfsTer9
NM_024675.3:c.2205dup , LRG_308t1:c.2205dup	NP_078951.2:p.Ala736SerfsTer9
XM_011545946.1:c.2211dup	XP_011544248.1:p.Ala738SerfsTer9
XM_011545947.1:c.2211dup	XP_011544249.1:p.Ala738SerfsTer9
XM_011545948.1:c.1320dup	XP_011544250.1:p.Ala441SerfsTer9
XR_950851.1:n.3001dup
XM_011545946.2:c.2211dup	XP_011544248.1:p.Ala738SerfsTer9
XM_011545947.2:c.2211dup	XP_011544249.1:p.Ala738SerfsTer9
XM_011545948.2:c.1320dup	XP_011544250.1:p.Ala441SerfsTer9
XM_017023671.1:c.2211dup	XP_016879160.1:p.Ala738SerfsTer9
XM_017023672.2:c.2205dup	XP_016879161.1:p.Ala736SerfsTer9
XM_017023673.2:c.2205dup	XP_016879162.1:p.Ala736SerfsTer9
NM_024675.4:c.2205dup MANE Select	NP_078951.2:p.Ala736SerfsTer9