Canonical Allele Identifier: CA3271846009
Community Standard Title: NM_024675.4(PALB2):c.3547_3549del (p.Tyr1183del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603471_23603473del , CM000678.2:g.23603471_23603473del GRCh38
NC_000016.9:g.23614792_23614794del , CM000678.1:g.23614792_23614794del GRCh37
NC_000016.8:g.23522293_23522295del NCBI36
NG_007406.1:g.42885_42887del , LRG_308:g.42885_42887del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3547_3549del MANE Select NP_078951.2:p.Tyr1183del
ENST00000261584.9:c.3547_3549del MANE Select ENSP00000261584.4:p.Tyr1183del
NM_024675.3:c.3547_3549del , LRG_308t1:c.3547_3549del NP_078951.2:p.Tyr1183del
ENST00000261584.8:c.3547_3549del ENSP00000261584.4:p.Tyr1183del
ENST00000561514.2:c.2662_2664del ENSP00000460666.2:p.Tyr888del
ENST00000561514.3:c.3553_3555del ENSP00000460666.3:p.Tyr1185del
ENST00000565038.2:c.*1032_*1034del ENSP00000459882.2:n.*1032_*1034del
ENST00000566069.5:c.313_315del
ENST00000566069.6:c.*182_*184del ENSP00000459237.2:n.*182_*184del
ENST00000568219.5:c.2662_2664del ENSP00000454703.2:p.Tyr888del
ENST00000697374.1:c.2662_2664del ENSP00000513284.1:p.Tyr888del
ENST00000697375.1:n.4894_4896del
ENST00000697376.1:c.*182_*184del ENSP00000513285.1:n.*182_*184del
ENST00000697377.1:c.2500_2502del ENSP00000513286.1:p.Tyr834del
ENST00000697377.2:c.3391_3393del ENSP00000513286.2:p.Tyr1131del
ENST00000697378.1:n.4067_4069del
ENST00000697379.1:c.2662_2664del ENSP00000513287.1:p.Tyr888del
ENST00000697379.2:c.3553_3555del ENSP00000513287.2:p.Tyr1185del
ENST00000697380.1:n.2751_2753del
ENST00000697381.1:n.2242_2244del
ENST00000697382.1:c.*324_*326del ENSP00000513288.1:n.*324_*326del
ENST00000697383.1:c.1081_1083del ENSP00000513289.1:p.Tyr361del
XM_011545946.1:c.3553_3555del XP_011544248.1:p.Tyr1185del
XM_011545946.2:c.3553_3555del XP_011544248.1:p.Tyr1185del
XM_011545947.1:c.*182_*184del XP_011544249.1:n.*182_*184del
XM_011545947.2:c.*182_*184del XP_011544249.1:n.*182_*184del
XM_011545948.1:c.2662_2664del XP_011544250.1:p.Tyr888del
XM_011545948.2:c.2662_2664del XP_011544250.1:p.Tyr888del
XM_017023671.1:c.3316_3318del XP_016879160.1:p.Tyr1106del
XM_017023672.2:c.3310_3312del XP_016879161.1:p.Tyr1104del
XM_017023673.2:c.*182_*184del XP_016879162.1:n.*182_*184del
XR_950851.1:n.4255_4257del