Canonical Allele Identifier: CA2695197583
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674123
ClinVar RCV Id: RCV003452319

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621430dup , CM000678.2:g.23621430dup GRCh38
NC_000016.9:g.23632751dup , CM000678.1:g.23632751dup GRCh37
NC_000016.8:g.23540252dup NCBI36
NG_007406.1:g.24931dup , LRG_308:g.24931dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3054dup ENSP00000460666.3:p.Ala1019CysfsTer2
ENST00000565038.2:c.*529dup ENSP00000459882.2:n.*529dup
ENST00000566069.6:c.3048dup ENSP00000459237.2:p.Ala1017CysfsTer2
ENST00000697377.2:c.2892dup ENSP00000513286.2:p.Ala965CysfsTer2
ENST00000697379.2:c.3054dup ENSP00000513287.2:p.Ala1019CysfsTer2
ENST00000561514.2:c.2163dup ENSP00000460666.2:p.Ala722CysfsTer2
ENST00000697374.1:c.2163dup ENSP00000513284.1:p.Ala722CysfsTer2
ENST00000697375.1:n.4395dup
ENST00000697376.1:c.2163dup ENSP00000513285.1:p.Ala722CysfsTer2
ENST00000697377.1:c.2001dup ENSP00000513286.1:p.Ala668CysfsTer2
ENST00000697378.1:n.3568dup
ENST00000697379.1:c.2163dup ENSP00000513287.1:p.Ala722CysfsTer2
ENST00000697380.1:n.2340dup
ENST00000697381.1:n.1743dup
ENST00000697382.1:c.2163dup ENSP00000513288.1:p.Ala722CysfsTer2
ENST00000697383.1:c.582dup ENSP00000513289.1:p.Ala195CysfsTer2
ENST00000261584.9:c.3048dup MANE Select ENSP00000261584.4:p.Ala1017CysfsTer2
ENST00000261584.8:c.3048dup ENSP00000261584.4:p.Ala1017CysfsTer2
ENST00000568219.5:c.2163dup ENSP00000454703.2:p.Ala722CysfsTer2
NM_024675.3:c.3048dup , LRG_308t1:c.3048dup NP_078951.2:p.Ala1017CysfsTer2
XM_011545946.1:c.3054dup XP_011544248.1:p.Ala1019CysfsTer2
XM_011545947.1:c.3054dup XP_011544249.1:p.Ala1019CysfsTer2
XM_011545948.1:c.2163dup XP_011544250.1:p.Ala722CysfsTer2
XR_950851.1:n.3844dup
XM_011545946.2:c.3054dup XP_011544248.1:p.Ala1019CysfsTer2
XM_011545947.2:c.3054dup XP_011544249.1:p.Ala1019CysfsTer2
XM_011545948.2:c.2163dup XP_011544250.1:p.Ala722CysfsTer2
XM_017023671.1:c.3054dup XP_016879160.1:p.Ala1019CysfsTer2
XM_017023672.2:c.3048dup XP_016879161.1:p.Ala1017CysfsTer2
XM_017023673.2:c.3048dup XP_016879162.1:p.Ala1017CysfsTer2
NM_024675.4:c.3048dup MANE Select NP_078951.2:p.Ala1017CysfsTer2