Canonical Allele Identifier: CA915949170
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623123_23623127del , CM000678.2:g.23623123_23623127del GRCh38
NC_000016.9:g.23634444_23634448del , CM000678.1:g.23634444_23634448del GRCh37
NC_000016.8:g.23541945_23541949del NCBI36
NG_007406.1:g.23231_23235del , LRG_308:g.23231_23235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2844_2848del ENSP00000460666.3:p.Cys951LeufsTer2
ENST00000565038.2:c.*319_*323del ENSP00000459882.2:n.*319_*323del
ENST00000566069.6:c.2838_2842del ENSP00000459237.2:p.Cys949LeufsTer2
ENST00000697377.2:c.2682_2686del ENSP00000513286.2:p.Cys897LeufsTer2
ENST00000697379.2:c.2844_2848del ENSP00000513287.2:p.Cys951LeufsTer2
ENST00000561514.2:c.1953_1957del ENSP00000460666.2:p.Cys654LeufsTer2
ENST00000697374.1:c.1953_1957del ENSP00000513284.1:p.Cys654LeufsTer2
ENST00000697375.1:n.4185_4189del
ENST00000697376.1:c.1953_1957del ENSP00000513285.1:p.Cys654LeufsTer2
ENST00000697377.1:c.1791_1795del ENSP00000513286.1:p.Cys600LeufsTer2
ENST00000697378.1:n.3358_3362del
ENST00000697379.1:c.1953_1957del ENSP00000513287.1:p.Cys654LeufsTer2
ENST00000697380.1:n.2130_2134del
ENST00000697381.1:n.1533_1537del
ENST00000697382.1:c.1953_1957del ENSP00000513288.1:p.Cys654LeufsTer2
ENST00000697383.1:c.372_376del ENSP00000513289.1:p.Cys127LeufsTer2
ENST00000261584.9:c.2838_2842del MANE Select ENSP00000261584.4:p.Cys949LeufsTer2
ENST00000261584.8:c.2838_2842del ENSP00000261584.4:p.Cys949LeufsTer2
ENST00000568219.5:c.1953_1957del ENSP00000454703.2:p.Cys654LeufsTer2
NM_024675.3:c.2838_2842del , LRG_308t1:c.2838_2842del NP_078951.2:p.Cys949LeufsTer2
XM_011545946.1:c.2844_2848del XP_011544248.1:p.Cys951LeufsTer2
XM_011545947.1:c.2844_2848del XP_011544249.1:p.Cys951LeufsTer2
XM_011545948.1:c.1953_1957del XP_011544250.1:p.Cys654LeufsTer2
XR_950851.1:n.3634_3638del
XM_011545946.2:c.2844_2848del XP_011544248.1:p.Cys951LeufsTer2
XM_011545947.2:c.2844_2848del XP_011544249.1:p.Cys951LeufsTer2
XM_011545948.2:c.1953_1957del XP_011544250.1:p.Cys654LeufsTer2
XM_017023671.1:c.2844_2848del XP_016879160.1:p.Cys951LeufsTer2
XM_017023672.2:c.2838_2842del XP_016879161.1:p.Cys949LeufsTer2
XM_017023673.2:c.2838_2842del XP_016879162.1:p.Cys949LeufsTer2
NM_024675.4:c.2838_2842del MANE Select NP_078951.2:p.Cys949LeufsTer2