Canonical Allele Identifier: CA3252638968
Community Standard Title: NM_024675.4(PALB2):c.3177_3179del (p.Cys1060del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614026_23614028del , CM000678.2:g.23614026_23614028del GRCh38
NC_000016.9:g.23625347_23625349del , CM000678.1:g.23625347_23625349del GRCh37
NC_000016.8:g.23532848_23532850del NCBI36
NG_007406.1:g.32330_32332del , LRG_308:g.32330_32332del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3177_3179del MANE Select NP_078951.2:p.Cys1060del
ENST00000261584.9:c.3177_3179del MANE Select ENSP00000261584.4:p.Cys1060del
NM_024675.3:c.3177_3179del , LRG_308t1:c.3177_3179del NP_078951.2:p.Cys1060del
ENST00000261584.8:c.3177_3179del ENSP00000261584.4:p.Cys1060del
ENST00000561514.2:c.2292_2294del ENSP00000460666.2:p.Cys765del
ENST00000561514.3:c.3183_3185del ENSP00000460666.3:p.Cys1062del
ENST00000565038.2:c.*658_*660del ENSP00000459882.2:n.*658_*660del
ENST00000566069.5:c.92_94del
ENST00000566069.6:c.3177_3179del ENSP00000459237.2:p.Cys1060del
ENST00000568219.5:c.2292_2294del ENSP00000454703.2:p.Cys765del
ENST00000697374.1:c.2292_2294del ENSP00000513284.1:p.Cys765del
ENST00000697375.1:n.4524_4526del
ENST00000697376.1:c.2292_2294del ENSP00000513285.1:p.Cys765del
ENST00000697377.1:c.2130_2132del ENSP00000513286.1:p.Cys711del
ENST00000697377.2:c.3021_3023del ENSP00000513286.2:p.Cys1008del
ENST00000697378.1:n.3697_3699del
ENST00000697379.1:c.2292_2294del ENSP00000513287.1:p.Cys765del
ENST00000697379.2:c.3183_3185del ENSP00000513287.2:p.Cys1062del
ENST00000697380.1:n.2406-6016_2406-6014del
ENST00000697381.1:n.1872_1874del
ENST00000697382.1:c.2229-6016_2229-6014del ENSP00000513288.1:n.2229-6016_2229-6014del
ENST00000697383.1:c.711_713del ENSP00000513289.1:p.Cys238del
XM_011545946.1:c.3183_3185del XP_011544248.1:p.Cys1062del
XM_011545946.2:c.3183_3185del XP_011544248.1:p.Cys1062del
XM_011545947.1:c.3183_3185del XP_011544249.1:p.Cys1062del
XM_011545947.2:c.3183_3185del XP_011544249.1:p.Cys1062del
XM_011545948.1:c.2292_2294del XP_011544250.1:p.Cys765del
XM_011545948.2:c.2292_2294del XP_011544250.1:p.Cys765del
XM_017023671.1:c.3119+7334_3119+7336del XP_016879160.1:n.3119+7334_3119+7336del
XM_017023672.2:c.3113+7334_3113+7336del XP_016879161.1:n.3113+7334_3113+7336del
XM_017023673.2:c.3177_3179del XP_016879162.1:p.Cys1060del
XR_950851.1:n.3910-6016_3910-6014del