Canonical Allele Identifier: CA2830782535
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630423_23630427del , CM000678.2:g.23630423_23630427del GRCh38
NC_000016.9:g.23641744_23641748del , CM000678.1:g.23641744_23641748del GRCh37
NC_000016.8:g.23549245_23549249del NCBI36
NG_007406.1:g.15931_15935del , LRG_308:g.15931_15935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1733_1737del ENSP00000460666.3:p.Ser578LysfsTer8
ENST00000565038.2:c.212-1152_212-1148del ENSP00000459882.2:n.212-1152_212-1148del
ENST00000566069.6:c.1727_1731del ENSP00000459237.2:p.Ser576LysfsTer8
ENST00000697377.2:c.1733_1737del ENSP00000513286.2:p.Ser578LysfsTer8
ENST00000697379.2:c.1733_1737del ENSP00000513287.2:p.Ser578LysfsTer8
ENST00000561514.2:c.842_846del ENSP00000460666.2:p.Ser281LysfsTer8
ENST00000697374.1:c.842_846del ENSP00000513284.1:p.Ser281LysfsTer8
ENST00000697375.1:n.3074_3078del
ENST00000697376.1:c.842_846del ENSP00000513285.1:p.Ser281LysfsTer8
ENST00000697377.1:c.842_846del ENSP00000513286.1:p.Ser281LysfsTer8
ENST00000697378.1:n.2247_2251del
ENST00000697379.1:c.842_846del ENSP00000513287.1:p.Ser281LysfsTer8
ENST00000697380.1:n.655_659del
ENST00000697381.1:n.422_426del
ENST00000697382.1:c.842_846del ENSP00000513288.1:p.Ser281LysfsTer8
ENST00000697383.1:c.49-1152_49-1148del ENSP00000513289.1:n.49-1152_49-1148del
ENST00000697384.1:n.1881_1885del
ENST00000261584.9:c.1727_1731del MANE Select ENSP00000261584.4:p.Ser576LysfsTer8
ENST00000261584.8:c.1727_1731del ENSP00000261584.4:p.Ser576LysfsTer8
ENST00000565038.1:c.87-1152_87-1148del
ENST00000568219.5:c.842_846del ENSP00000454703.2:p.Ser281LysfsTer8
NM_024675.3:c.1727_1731del , LRG_308t1:c.1727_1731del NP_078951.2:p.Ser576LysfsTer8
XM_011545946.1:c.1733_1737del XP_011544248.1:p.Ser578LysfsTer8
XM_011545947.1:c.1733_1737del XP_011544249.1:p.Ser578LysfsTer8
XM_011545948.1:c.842_846del XP_011544250.1:p.Ser281LysfsTer8
XR_950851.1:n.2523_2527del
XM_011545946.2:c.1733_1737del XP_011544248.1:p.Ser578LysfsTer8
XM_011545947.2:c.1733_1737del XP_011544249.1:p.Ser578LysfsTer8
XM_011545948.2:c.842_846del XP_011544250.1:p.Ser281LysfsTer8
XM_017023671.1:c.1733_1737del XP_016879160.1:p.Ser578LysfsTer8
XM_017023672.2:c.1727_1731del XP_016879161.1:p.Ser576LysfsTer8
XM_017023673.2:c.1727_1731del XP_016879162.1:p.Ser576LysfsTer8
NM_024675.4:c.1727_1731del MANE Select NP_078951.2:p.Ser576LysfsTer8