Canonical Allele Identifier: CA3252641211
Community Standard Title: NM_024675.4(PALB2):c.173_175del (p.Leu58del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637887_23637889del , CM000678.2:g.23637887_23637889del GRCh38
NC_000016.9:g.23649208_23649210del , CM000678.1:g.23649208_23649210del GRCh37
NC_000016.8:g.23556709_23556711del NCBI36
NG_007406.1:g.8470_8472del , LRG_308:g.8470_8472del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.173_175del MANE Select NP_078951.2:p.Leu58del
ENST00000261584.9:c.173_175del MANE Select ENSP00000261584.4:p.Leu58del
NM_024675.3:c.173_175del , LRG_308t1:c.173_175del NP_078951.2:p.Leu58del
ENST00000261584.8:c.173_175del ENSP00000261584.4:p.Leu58del
ENST00000561514.1:c.179_181del ENSP00000460666.1:p.Leu60del
ENST00000561514.2:c.-713_-711del ENSP00000460666.2:n.-713_-711del
ENST00000561514.3:c.179_181del ENSP00000460666.3:p.Leu60del
ENST00000565038.1:c.48_50del
ENST00000565038.2:c.173_175del ENSP00000459882.2:p.Leu58del
ENST00000566069.6:c.173_175del ENSP00000459237.2:p.Leu58del
ENST00000567003.1:n.451_453del
ENST00000568219.5:c.-713_-711del ENSP00000454703.2:n.-713_-711del
ENST00000697374.1:c.-713_-711del ENSP00000513284.1:n.-713_-711del
ENST00000697375.1:n.1520_1522del
ENST00000697376.1:c.-713_-711del ENSP00000513285.1:n.-713_-711del
ENST00000697377.1:c.-713_-711del ENSP00000513286.1:n.-713_-711del
ENST00000697377.2:c.179_181del ENSP00000513286.2:p.Leu60del
ENST00000697378.1:n.693_695del
ENST00000697379.1:c.-713_-711del ENSP00000513287.1:n.-713_-711del
ENST00000697379.2:c.179_181del ENSP00000513287.2:p.Leu60del
ENST00000697382.1:c.-713_-711del ENSP00000513288.1:n.-713_-711del
ENST00000697383.1:c.48+3222_48+3224del ENSP00000513289.1:n.48+3222_48+3224del
ENST00000697384.1:n.327_329del
XM_011545946.1:c.179_181del XP_011544248.1:p.Leu60del
XM_011545946.2:c.179_181del XP_011544248.1:p.Leu60del
XM_011545947.1:c.179_181del XP_011544249.1:p.Leu60del
XM_011545947.2:c.179_181del XP_011544249.1:p.Leu60del
XM_011545948.1:c.-713_-711del XP_011544250.1:n.-713_-711del
XM_011545948.2:c.-713_-711del XP_011544250.1:n.-713_-711del
XM_017023671.1:c.179_181del XP_016879160.1:p.Leu60del
XM_017023672.2:c.173_175del XP_016879161.1:p.Leu58del
XM_017023673.2:c.173_175del XP_016879162.1:p.Leu58del
XR_950851.1:n.969_971del