Canonical Allele Identifier: CA026293
Community Standard Title: NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257ArgfsTer17)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398283_32398286del , CM000675.2:g.32398283_32398286del GRCh38
NC_000013.10:g.32972420_32972423del , CM000675.1:g.32972420_32972423del GRCh37
NC_000013.9:g.31870420_31870423del NCBI36
NG_012772.3:g.87804_87807del , LRG_293:g.87804_87807del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9770_9773del MANE Select NP_000050.3:p.Lys3257ArgfsTer17
ENST00000380152.8:c.9770_9773del MANE Select ENSP00000369497.3:p.Lys3257ArgfsTer17
NM_000059.3:c.9770_9773del , LRG_293t1:c.9770_9773del NP_000050.2:p.Lys3257ArgfsTer17
ENST00000380152.7:c.9770_9773del ENSP00000369497.3:p.Lys3257ArgfsTer17
ENST00000470094.2:c.*293_*296del ENSP00000434898.2:n.*293_*296del
ENST00000528762.2:c.*1137_*1140del ENSP00000433168.2:n.*1137_*1140del
ENST00000530893.7:c.9401_9404del ENSP00000499438.2:p.Lys3134ArgfsTer17
ENST00000533776.1:n.358_361del
ENST00000544455.5:c.9770_9773del ENSP00000439902.1:p.Lys3257ArgfsTer17
ENST00000544455.6:c.9770_9773del ENSP00000439902.1:p.Lys3257ArgfsTer17
ENST00000614259.2:c.9778_9781del ENSP00000506251.1:n.9778_9781del
ENST00000665585.2:c.*1332_*1335del ENSP00000499570.2:n.*1332_*1335del
ENST00000680887.1:c.9770_9773del ENSP00000505508.1:p.Lys3257ArgfsTer17
ENST00000700202.1:c.2186_2189del ENSP00000514856.1:p.Lys729ArgfsTer17
ENST00000700202.2:c.9719_9722del ENSP00000514856.2:p.Lys3240ArgfsTer17
ENST00000700203.1:n.1897_1900del
XM_011535203.1:c.9770_9773del XP_011533505.1:p.Lys3257ArgfsTer17
XM_011535204.1:c.9674_9677del XP_011533506.1:p.Lys3225ArgfsTer17