Canonical Allele Identifier: CA2632326855
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635508_23635511del , CM000678.2:g.23635508_23635511del GRCh38
NC_000016.9:g.23646829_23646832del , CM000678.1:g.23646829_23646832del GRCh37
NC_000016.8:g.23554330_23554333del NCBI36
NG_007406.1:g.10847_10850del , LRG_308:g.10847_10850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1041_1044del ENSP00000460666.3:p.Lys348AsnfsTer9
ENST00000565038.2:c.211+2339_211+2342del ENSP00000459882.2:n.211+2339_211+2342del
ENST00000566069.6:c.1035_1038del ENSP00000459237.2:p.Lys346AsnfsTer9
ENST00000697377.2:c.1041_1044del ENSP00000513286.2:p.Lys348AsnfsTer9
ENST00000697379.2:c.1041_1044del ENSP00000513287.2:p.Lys348AsnfsTer9
ENST00000561514.2:c.150_153del ENSP00000460666.2:p.Lys51AsnfsTer9
ENST00000697374.1:c.150_153del ENSP00000513284.1:p.Lys51AsnfsTer9
ENST00000697375.1:n.2382_2385del
ENST00000697376.1:c.150_153del ENSP00000513285.1:p.Lys51AsnfsTer9
ENST00000697377.1:c.150_153del ENSP00000513286.1:p.Lys51AsnfsTer9
ENST00000697378.1:n.1555_1558del
ENST00000697379.1:c.150_153del ENSP00000513287.1:p.Lys51AsnfsTer9
ENST00000697382.1:c.150_153del ENSP00000513288.1:p.Lys51AsnfsTer9
ENST00000697383.1:c.48+5599_48+5602del ENSP00000513289.1:n.48+5599_48+5602del
ENST00000697384.1:n.1189_1192del
ENST00000261584.9:c.1035_1038del MANE Select ENSP00000261584.4:p.Lys346AsnfsTer9
ENST00000261584.8:c.1035_1038del ENSP00000261584.4:p.Lys346AsnfsTer9
ENST00000565038.1:c.86+2339_86+2342del
ENST00000568219.5:c.150_153del ENSP00000454703.2:p.Lys51AsnfsTer9
NM_024675.3:c.1035_1038del , LRG_308t1:c.1035_1038del NP_078951.2:p.Lys346AsnfsTer9
XM_011545946.1:c.1041_1044del XP_011544248.1:p.Lys348AsnfsTer9
XM_011545947.1:c.1041_1044del XP_011544249.1:p.Lys348AsnfsTer9
XM_011545948.1:c.150_153del XP_011544250.1:p.Lys51AsnfsTer9
XR_950851.1:n.1831_1834del
XM_011545946.2:c.1041_1044del XP_011544248.1:p.Lys348AsnfsTer9
XM_011545947.2:c.1041_1044del XP_011544249.1:p.Lys348AsnfsTer9
XM_011545948.2:c.150_153del XP_011544250.1:p.Lys51AsnfsTer9
XM_017023671.1:c.1041_1044del XP_016879160.1:p.Lys348AsnfsTer9
XM_017023672.2:c.1035_1038del XP_016879161.1:p.Lys346AsnfsTer9
XM_017023673.2:c.1035_1038del XP_016879162.1:p.Lys346AsnfsTer9
NM_024675.4:c.1035_1038del MANE Select NP_078951.2:p.Lys346AsnfsTer9