Canonical Allele Identifier: CA2732047183
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142481327

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641136dup , CM000678.2:g.23641136dup GRCh38
NC_000016.9:g.23652457dup , CM000678.1:g.23652457dup GRCh37
NC_000016.8:g.23559958dup NCBI36
NG_007406.1:g.5225dup , LRG_308:g.5225dup

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.-828dup ENSP00000460666.3:n.-828dup
ENST00000565038.2:c.25dup ENSP00000459882.2:p.Leu9ProfsTer4
ENST00000566069.6:c.25dup ENSP00000459237.2:p.Leu9ProfsTer4
ENST00000697377.2:c.-215dup ENSP00000513286.2:n.-215dup
ENST00000697379.2:c.-121dup ENSP00000513287.2:n.-121dup
ENST00000561514.2:c.-1719dup ENSP00000460666.2:n.-1719dup
ENST00000697374.1:c.-1310dup ENSP00000513284.1:n.-1310dup
ENST00000697376.1:c.-1031dup ENSP00000513285.1:n.-1031dup
ENST00000697377.1:c.-1106dup ENSP00000513286.1:n.-1106dup
ENST00000697379.1:c.-1012dup ENSP00000513287.1:n.-1012dup
ENST00000697382.1:c.-1770dup ENSP00000513288.1:n.-1770dup
ENST00000697383.1:c.25dup ENSP00000513289.1:p.Leu9ProfsTer4
ENST00000697384.1:n.179dup
ENST00000261584.9:c.25dup MANE Select ENSP00000261584.4:p.Leu9ProfsTer4
ENST00000261584.8:c.25dup ENSP00000261584.4:p.Leu9ProfsTer4
ENST00000567003.1:n.169dup
ENST00000568219.5:c.-844dup ENSP00000454703.2:n.-844dup
NM_024675.3:c.25dup , LRG_308t1:c.25dup NP_078951.2:p.Leu9ProfsTer4
XM_011545948.1:c.-995dup XP_011544250.1:n.-995dup
XM_011545946.2:c.-828dup XP_011544248.1:n.-828dup
XM_011545947.2:c.-828dup XP_011544249.1:n.-828dup
XM_011545948.2:c.-995dup XP_011544250.1:n.-995dup
XM_017023671.1:c.-828dup XP_016879160.1:n.-828dup
XM_017023672.2:c.25dup XP_016879161.1:p.Leu9ProfsTer4
XM_017023673.2:c.25dup XP_016879162.1:p.Leu9ProfsTer4
NM_024675.4:c.25dup MANE Select NP_078951.2:p.Leu9ProfsTer4