Canonical Allele Identifier: CA645592551

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1798867
• ClinVar RCV Id: RCV002435838 ; RCV003455507
• COSMIC: COSM1376807

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621462dup , CM000678.2:g.23621462dup	GRCh38
NC_000016.9:g.23632783dup , CM000678.1:g.23632783dup	GRCh37
NC_000016.8:g.23540284dup	NCBI36
NG_007406.1:g.24900dup , LRG_308:g.24900dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3023dup	ENSP00000460666.3:p.Leu1008PhefsTer5
ENST00000565038.2:c.*498dup	ENSP00000459882.2:n.*498dup
ENST00000566069.6:c.3017dup	ENSP00000459237.2:p.Leu1006PhefsTer5
ENST00000697377.2:c.2861dup	ENSP00000513286.2:p.Leu954PhefsTer5
ENST00000697379.2:c.3023dup	ENSP00000513287.2:p.Leu1008PhefsTer5
ENST00000561514.2:c.2132dup	ENSP00000460666.2:p.Leu711PhefsTer5
ENST00000697374.1:c.2132dup	ENSP00000513284.1:p.Leu711PhefsTer5
ENST00000697375.1:n.4364dup
ENST00000697376.1:c.2132dup	ENSP00000513285.1:p.Leu711PhefsTer5
ENST00000697377.1:c.1970dup	ENSP00000513286.1:p.Leu657PhefsTer5
ENST00000697378.1:n.3537dup
ENST00000697379.1:c.2132dup	ENSP00000513287.1:p.Leu711PhefsTer5
ENST00000697380.1:n.2309dup
ENST00000697381.1:n.1712dup
ENST00000697382.1:c.2132dup	ENSP00000513288.1:p.Leu711PhefsTer5
ENST00000697383.1:c.551dup	ENSP00000513289.1:p.Leu184PhefsTer5
ENST00000261584.9:c.3017dup MANE Select	ENSP00000261584.4:p.Leu1006PhefsTer5
ENST00000261584.8:c.3017dup	ENSP00000261584.4:p.Leu1006PhefsTer5
ENST00000568219.5:c.2132dup	ENSP00000454703.2:p.Leu711PhefsTer5
NM_024675.3:c.3017dup , LRG_308t1:c.3017dup	NP_078951.2:p.Leu1006PhefsTer5
XM_011545946.1:c.3023dup	XP_011544248.1:p.Leu1008PhefsTer5
XM_011545947.1:c.3023dup	XP_011544249.1:p.Leu1008PhefsTer5
XM_011545948.1:c.2132dup	XP_011544250.1:p.Leu711PhefsTer5
XR_950851.1:n.3813dup
XM_011545946.2:c.3023dup	XP_011544248.1:p.Leu1008PhefsTer5
XM_011545947.2:c.3023dup	XP_011544249.1:p.Leu1008PhefsTer5
XM_011545948.2:c.2132dup	XP_011544250.1:p.Leu711PhefsTer5
XM_017023671.1:c.3023dup	XP_016879160.1:p.Leu1008PhefsTer5
XM_017023672.2:c.3017dup	XP_016879161.1:p.Leu1006PhefsTer5
XM_017023673.2:c.3017dup	XP_016879162.1:p.Leu1006PhefsTer5
NM_024675.4:c.3017dup MANE Select	NP_078951.2:p.Leu1006PhefsTer5