Canonical Allele Identifier: CA3265662803
Community Standard Title: NM_024675.4(PALB2):c.131_206del (p.Ile44ThrfsTer?)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637856_23637931del , CM000678.2:g.23637856_23637931del GRCh38
NC_000016.9:g.23649177_23649252del , CM000678.1:g.23649177_23649252del GRCh37
NC_000016.8:g.23556678_23556753del NCBI36
NG_007406.1:g.8428_8503del , LRG_308:g.8428_8503del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.131_206del MANE Select NP_078951.2:p.Ile44ThrfsTer?
ENST00000261584.9:c.131_206del MANE Select ENSP00000261584.4:p.Ile44ThrfsTer?
NM_024675.3:c.131_206del , LRG_308t1:c.131_206del NP_078951.2:p.Ile44ThrfsTer?
ENST00000261584.8:c.131_206del ENSP00000261584.4:p.Ile44ThrfsTer?
ENST00000561514.1:c.137_212del ENSP00000460666.1:p.Ile46ThrfsTer?
ENST00000561514.2:c.-755_-680del ENSP00000460666.2:n.-755_-680del
ENST00000561514.3:c.137_212del ENSP00000460666.3:p.Ile46ThrfsTer?
ENST00000565038.1:c.6_81del
ENST00000565038.2:c.131_206del ENSP00000459882.2:p.Ile44ThrfsTer?
ENST00000566069.6:c.131_206del ENSP00000459237.2:p.Ile44ThrfsTer?
ENST00000567003.1:n.409_484del
ENST00000568219.5:c.-755_-680del ENSP00000454703.2:n.-755_-680del
ENST00000697374.1:c.-755_-680del ENSP00000513284.1:n.-755_-680del
ENST00000697375.1:n.1478_1553del
ENST00000697376.1:c.-755_-680del ENSP00000513285.1:n.-755_-680del
ENST00000697377.1:c.-755_-680del ENSP00000513286.1:n.-755_-680del
ENST00000697377.2:c.137_212del ENSP00000513286.2:p.Ile46ThrfsTer?
ENST00000697378.1:n.651_726del
ENST00000697379.1:c.-755_-680del ENSP00000513287.1:n.-755_-680del
ENST00000697379.2:c.137_212del ENSP00000513287.2:p.Ile46ThrfsTer?
ENST00000697382.1:c.-755_-680del ENSP00000513288.1:n.-755_-680del
ENST00000697383.1:c.48+3180_48+3255del ENSP00000513289.1:n.48+3180_48+3255del
ENST00000697384.1:n.285_360del
XM_011545946.1:c.137_212del XP_011544248.1:p.Ile46ThrfsTer?
XM_011545946.2:c.137_212del XP_011544248.1:p.Ile46ThrfsTer?
XM_011545947.1:c.137_212del XP_011544249.1:p.Ile46ThrfsTer?
XM_011545947.2:c.137_212del XP_011544249.1:p.Ile46ThrfsTer?
XM_011545948.1:c.-755_-680del XP_011544250.1:n.-755_-680del
XM_011545948.2:c.-755_-680del XP_011544250.1:n.-755_-680del
XM_017023671.1:c.137_212del XP_016879160.1:p.Ile46ThrfsTer?
XM_017023672.2:c.131_206del XP_016879161.1:p.Ile44ThrfsTer?
XM_017023673.2:c.131_206del XP_016879162.1:p.Ile44ThrfsTer?
XR_950851.1:n.927_1002del