Canonical Allele Identifier: CA1139664628
Community Standard Title: NM_024675.4(PALB2):c.147_149del (p.Lys50del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637914_23637916del , CM000678.2:g.23637914_23637916del GRCh38
NC_000016.9:g.23649235_23649237del , CM000678.1:g.23649235_23649237del GRCh37
NC_000016.8:g.23556736_23556738del NCBI36
NG_007406.1:g.8444_8446del , LRG_308:g.8444_8446del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.147_149del MANE Select NP_078951.2:p.Lys50del
ENST00000261584.9:c.147_149del MANE Select ENSP00000261584.4:p.Lys50del
NM_024675.3:c.147_149del , LRG_308t1:c.147_149del NP_078951.2:p.Lys50del
ENST00000261584.8:c.147_149del ENSP00000261584.4:p.Lys50del
ENST00000561514.1:c.153_155del ENSP00000460666.1:p.Lys52del
ENST00000561514.2:c.-739_-737del ENSP00000460666.2:n.-739_-737del
ENST00000561514.3:c.153_155del ENSP00000460666.3:p.Lys52del
ENST00000565038.1:c.22_24del
ENST00000565038.2:c.147_149del ENSP00000459882.2:p.Lys50del
ENST00000566069.6:c.147_149del ENSP00000459237.2:p.Lys50del
ENST00000567003.1:n.425_427del
ENST00000568219.5:c.-739_-737del ENSP00000454703.2:n.-739_-737del
ENST00000697374.1:c.-739_-737del ENSP00000513284.1:n.-739_-737del
ENST00000697375.1:n.1494_1496del
ENST00000697376.1:c.-739_-737del ENSP00000513285.1:n.-739_-737del
ENST00000697377.1:c.-739_-737del ENSP00000513286.1:n.-739_-737del
ENST00000697377.2:c.153_155del ENSP00000513286.2:p.Lys52del
ENST00000697378.1:n.667_669del
ENST00000697379.1:c.-739_-737del ENSP00000513287.1:n.-739_-737del
ENST00000697379.2:c.153_155del ENSP00000513287.2:p.Lys52del
ENST00000697382.1:c.-739_-737del ENSP00000513288.1:n.-739_-737del
ENST00000697383.1:c.48+3196_48+3198del ENSP00000513289.1:n.48+3196_48+3198del
ENST00000697384.1:n.301_303del
XM_011545946.1:c.153_155del XP_011544248.1:p.Lys52del
XM_011545946.2:c.153_155del XP_011544248.1:p.Lys52del
XM_011545947.1:c.153_155del XP_011544249.1:p.Lys52del
XM_011545947.2:c.153_155del XP_011544249.1:p.Lys52del
XM_011545948.1:c.-739_-737del XP_011544250.1:n.-739_-737del
XM_011545948.2:c.-739_-737del XP_011544250.1:n.-739_-737del
XM_017023671.1:c.153_155del XP_016879160.1:p.Lys52del
XM_017023672.2:c.147_149del XP_016879161.1:p.Lys50del
XM_017023673.2:c.147_149del XP_016879162.1:p.Lys50del
XR_950851.1:n.943_945del