Canonical Allele Identifier: CA645592550

Gene: PALB2

Linked Data

• COSMIC: COSM296028

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621453dup , CM000678.2:g.23621453dup	GRCh38
NC_000016.9:g.23632774dup , CM000678.1:g.23632774dup	GRCh37
NC_000016.8:g.23540275dup	NCBI36
NG_007406.1:g.24909dup , LRG_308:g.24909dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3032dup	ENSP00000460666.3:p.Glu1012Ter
ENST00000565038.2:c.*507dup	ENSP00000459882.2:n.*507dup
ENST00000566069.6:c.3026dup	ENSP00000459237.2:p.Glu1010Ter
ENST00000697377.2:c.2870dup	ENSP00000513286.2:p.Glu958Ter
ENST00000697379.2:c.3032dup	ENSP00000513287.2:p.Glu1012Ter
ENST00000561514.2:c.2141dup	ENSP00000460666.2:p.Glu715Ter
ENST00000697374.1:c.2141dup	ENSP00000513284.1:p.Glu715Ter
ENST00000697375.1:n.4373dup
ENST00000697376.1:c.2141dup	ENSP00000513285.1:p.Glu715Ter
ENST00000697377.1:c.1979dup	ENSP00000513286.1:p.Glu661Ter
ENST00000697378.1:n.3546dup
ENST00000697379.1:c.2141dup	ENSP00000513287.1:p.Glu715Ter
ENST00000697380.1:n.2318dup
ENST00000697381.1:n.1721dup
ENST00000697382.1:c.2141dup	ENSP00000513288.1:p.Glu715Ter
ENST00000697383.1:c.560dup	ENSP00000513289.1:p.Glu188Ter
ENST00000261584.9:c.3026dup MANE Select	ENSP00000261584.4:p.Glu1010Ter
ENST00000261584.8:c.3026dup	ENSP00000261584.4:p.Glu1010Ter
ENST00000568219.5:c.2141dup	ENSP00000454703.2:p.Glu715Ter
NM_024675.3:c.3026dup , LRG_308t1:c.3026dup	NP_078951.2:p.Glu1010Ter
XM_011545946.1:c.3032dup	XP_011544248.1:p.Glu1012Ter
XM_011545947.1:c.3032dup	XP_011544249.1:p.Glu1012Ter
XM_011545948.1:c.2141dup	XP_011544250.1:p.Glu715Ter
XR_950851.1:n.3822dup
XM_011545946.2:c.3032dup	XP_011544248.1:p.Glu1012Ter
XM_011545947.2:c.3032dup	XP_011544249.1:p.Glu1012Ter
XM_011545948.2:c.2141dup	XP_011544250.1:p.Glu715Ter
XM_017023671.1:c.3032dup	XP_016879160.1:p.Glu1012Ter
XM_017023672.2:c.3026dup	XP_016879161.1:p.Glu1010Ter
XM_017023673.2:c.3026dup	XP_016879162.1:p.Glu1010Ter
NM_024675.4:c.3026dup MANE Select	NP_078951.2:p.Glu1010Ter