Canonical Allele Identifier: CA2732067988
Community Standard Title: NM_024675.4(PALB2):c.177_178del (p.Gln60AlafsTer13)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637885_23637886del , CM000678.2:g.23637885_23637886del GRCh38
NC_000016.9:g.23649206_23649207del , CM000678.1:g.23649206_23649207del GRCh37
NC_000016.8:g.23556707_23556708del NCBI36
NG_007406.1:g.8474_8475del , LRG_308:g.8474_8475del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.177_178del MANE Select NP_078951.2:p.Gln60AlafsTer13
ENST00000261584.9:c.177_178del MANE Select ENSP00000261584.4:p.Gln60AlafsTer13
NM_024675.3:c.177_178del , LRG_308t1:c.177_178del NP_078951.2:p.Gln60AlafsTer13
ENST00000261584.8:c.177_178del ENSP00000261584.4:p.Gln60AlafsTer13
ENST00000561514.1:c.183_184del ENSP00000460666.1:p.Gln62AlafsTer13
ENST00000561514.2:c.-709_-708del ENSP00000460666.2:n.-709_-708del
ENST00000561514.3:c.183_184del ENSP00000460666.3:p.Gln62AlafsTer13
ENST00000565038.1:c.52_53del
ENST00000565038.2:c.177_178del ENSP00000459882.2:p.Gln60AlafsTer23
ENST00000566069.6:c.177_178del ENSP00000459237.2:p.Gln60AlafsTer13
ENST00000567003.1:n.455_456del
ENST00000568219.5:c.-709_-708del ENSP00000454703.2:n.-709_-708del
ENST00000697374.1:c.-709_-708del ENSP00000513284.1:n.-709_-708del
ENST00000697375.1:n.1524_1525del
ENST00000697376.1:c.-709_-708del ENSP00000513285.1:n.-709_-708del
ENST00000697377.1:c.-709_-708del ENSP00000513286.1:n.-709_-708del
ENST00000697377.2:c.183_184del ENSP00000513286.2:p.Gln62AlafsTer13
ENST00000697378.1:n.697_698del
ENST00000697379.1:c.-709_-708del ENSP00000513287.1:n.-709_-708del
ENST00000697379.2:c.183_184del ENSP00000513287.2:p.Gln62AlafsTer13
ENST00000697382.1:c.-709_-708del ENSP00000513288.1:n.-709_-708del
ENST00000697383.1:c.48+3226_48+3227del ENSP00000513289.1:n.48+3226_48+3227del
ENST00000697384.1:n.331_332del
XM_011545946.1:c.183_184del XP_011544248.1:p.Gln62AlafsTer13
XM_011545946.2:c.183_184del XP_011544248.1:p.Gln62AlafsTer13
XM_011545947.1:c.183_184del XP_011544249.1:p.Gln62AlafsTer13
XM_011545947.2:c.183_184del XP_011544249.1:p.Gln62AlafsTer13
XM_011545948.1:c.-709_-708del XP_011544250.1:n.-709_-708del
XM_011545948.2:c.-709_-708del XP_011544250.1:n.-709_-708del
XM_017023671.1:c.183_184del XP_016879160.1:p.Gln62AlafsTer13
XM_017023672.2:c.177_178del XP_016879161.1:p.Gln60AlafsTer13
XM_017023673.2:c.177_178del XP_016879162.1:p.Gln60AlafsTer13
XR_950851.1:n.973_974del