Canonical Allele Identifier: CA2580612728
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784330
ClinVar RCV Id: RCV002417267

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630148_23630150del , CM000678.2:g.23630148_23630150del GRCh38
NC_000016.9:g.23641469_23641471del , CM000678.1:g.23641469_23641471del GRCh37
NC_000016.8:g.23548970_23548972del NCBI36
NG_007406.1:g.16211_16213del , LRG_308:g.16211_16213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2013_2015del ENSP00000460666.3:p.Glu671del
ENST00000565038.2:c.212-872_212-870del ENSP00000459882.2:n.212-872_212-870del
ENST00000566069.6:c.2007_2009del ENSP00000459237.2:p.Glu669del
ENST00000697377.2:c.2013_2015del ENSP00000513286.2:p.Glu671del
ENST00000697379.2:c.2013_2015del ENSP00000513287.2:p.Glu671del
ENST00000561514.2:c.1122_1124del ENSP00000460666.2:p.Glu374del
ENST00000697374.1:c.1122_1124del ENSP00000513284.1:p.Glu374del
ENST00000697375.1:n.3354_3356del
ENST00000697376.1:c.1122_1124del ENSP00000513285.1:p.Glu374del
ENST00000697377.1:c.1122_1124del ENSP00000513286.1:p.Glu374del
ENST00000697378.1:n.2527_2529del
ENST00000697379.1:c.1122_1124del ENSP00000513287.1:p.Glu374del
ENST00000697380.1:n.935_937del
ENST00000697381.1:n.702_704del
ENST00000697382.1:c.1122_1124del ENSP00000513288.1:p.Glu374del
ENST00000697383.1:c.49-872_49-870del ENSP00000513289.1:n.49-872_49-870del
ENST00000697384.1:n.2161_2163del
ENST00000261584.9:c.2007_2009del MANE Select ENSP00000261584.4:p.Glu669del
ENST00000261584.8:c.2007_2009del ENSP00000261584.4:p.Glu669del
ENST00000565038.1:c.87-872_87-870del
ENST00000568219.5:c.1122_1124del ENSP00000454703.2:p.Glu374del
NM_024675.3:c.2007_2009del , LRG_308t1:c.2007_2009del NP_078951.2:p.Glu669del
XM_011545946.1:c.2013_2015del XP_011544248.1:p.Glu671del
XM_011545947.1:c.2013_2015del XP_011544249.1:p.Glu671del
XM_011545948.1:c.1122_1124del XP_011544250.1:p.Glu374del
XR_950851.1:n.2803_2805del
XM_011545946.2:c.2013_2015del XP_011544248.1:p.Glu671del
XM_011545947.2:c.2013_2015del XP_011544249.1:p.Glu671del
XM_011545948.2:c.1122_1124del XP_011544250.1:p.Glu374del
XM_017023671.1:c.2013_2015del XP_016879160.1:p.Glu671del
XM_017023672.2:c.2007_2009del XP_016879161.1:p.Glu669del
XM_017023673.2:c.2007_2009del XP_016879162.1:p.Glu669del
NM_024675.4:c.2007_2009del MANE Select NP_078951.2:p.Glu669del