Canonical Allele Identifier: CA645294074
Community Standard Title: NM_000059.4(BRCA2):c.6650_6654del (p.Lys2217IlefsTer6)
Gene: BRCA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32341005_32341009del , CM000675.2:g.32341005_32341009del GRCh38
NC_000013.10:g.32915142_32915146del , CM000675.1:g.32915142_32915146del GRCh37
NC_000013.9:g.31813142_31813146del NCBI36
NG_012772.3:g.30526_30530del , LRG_293:g.30526_30530del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.6650_6654del MANE Select NP_000050.3:p.Lys2217IlefsTer6
ENST00000380152.8:c.6650_6654del MANE Select ENSP00000369497.3:p.Lys2217IlefsTer6
NM_000059.3:c.6650_6654del , LRG_293t1:c.6650_6654del NP_000050.2:p.Lys2217IlefsTer6
ENST00000380152.7:c.6650_6654del ENSP00000369497.3:p.Lys2217IlefsTer6
ENST00000470094.2:c.6650_6654del ENSP00000434898.2:p.Lys2217IlefsTer6
ENST00000528762.2:c.6650_6654del ENSP00000433168.2:p.Lys2217IlefsTer6
ENST00000530893.7:c.6281_6285del ENSP00000499438.2:p.Lys2094IlefsTer6
ENST00000544455.5:c.6650_6654del ENSP00000439902.1:p.Lys2217IlefsTer6
ENST00000544455.6:c.6650_6654del ENSP00000439902.1:p.Lys2217IlefsTer6
ENST00000614259.1:n.6650_6654del
ENST00000614259.2:c.6650_6654del ENSP00000506251.1:p.Lys2217IlefsTer6
ENST00000665585.2:c.6650_6654del ENSP00000499570.2:p.Lys2217IlefsTer6
ENST00000666593.2:c.6650_6654del ENSP00000499256.2:p.Lys2217IlefsTer6
ENST00000680887.1:c.6650_6654del ENSP00000505508.1:p.Lys2217IlefsTer6
ENST00000700202.2:c.6650_6654del ENSP00000514856.2:p.Lys2217IlefsTer6
XM_011535203.1:c.6650_6654del XP_011533505.1:p.Lys2217IlefsTer6
XM_011535204.1:c.6650_6654del XP_011533506.1:p.Lys2217IlefsTer6
XM_011535205.1:c.6650_6654del XP_011533507.1:p.Lys2217IlefsTer6
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