Canonical Allele Identifier: CA3273067164
Community Standard Title: NM_000059.4(BRCA2):c.91_93delinsAGA (p.Trp31Arg)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319100_32319102delinsAGA , CM000675.2:g.32319100_32319102delinsAGA GRCh38
NC_000013.10:g.32893237_32893239delinsAGA , CM000675.1:g.32893237_32893239delinsAGA GRCh37
NC_000013.9:g.31791237_31791239delinsAGA NCBI36
NG_012772.3:g.8621_8623delinsAGA , LRG_293:g.8621_8623delinsAGA
NG_017006.2:g.1262_1264delinsTCT

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.91_93delinsAGA MANE Select NP_000050.3:p.Trp31Arg
ENST00000380152.8:c.91_93delinsAGA MANE Select ENSP00000369497.3:p.Trp31Arg
NM_000059.3:c.91_93delinsAGA , LRG_293t1:c.91_93delinsAGA NP_000050.2:p.Trp31Arg
ENST00000380152.7:c.91_93delinsAGA ENSP00000369497.3:p.Trp31Arg
ENST00000470094.2:c.91_93delinsAGA ENSP00000434898.2:p.Trp31Arg
ENST00000528762.2:c.91_93delinsAGA ENSP00000433168.2:p.Trp31Arg
ENST00000530893.6:n.289_291delinsAGA
ENST00000530893.7:c.-279_-277delinsAGA ENSP00000499438.2:n.-279_-277delinsAGA
ENST00000544455.5:c.91_93delinsAGA ENSP00000439902.1:p.Trp31Arg
ENST00000544455.6:c.91_93delinsAGA ENSP00000439902.1:p.Trp31Arg
ENST00000614259.1:n.91_93delinsAGA
ENST00000614259.2:c.91_93delinsAGA ENSP00000506251.1:p.Trp31Arg
ENST00000665585.2:c.91_93delinsAGA ENSP00000499570.2:p.Trp31Arg
ENST00000666593.2:c.91_93delinsAGA ENSP00000499256.2:p.Trp31Arg
ENST00000680887.1:c.91_93delinsAGA ENSP00000505508.1:p.Trp31Arg
ENST00000700200.1:n.191+2573_191+2575delinsAGA
ENST00000700201.1:c.91_93delinsAGA ENSP00000514855.1:p.Trp31Arg
ENST00000700202.2:c.91_93delinsAGA ENSP00000514856.2:p.Trp31Arg
XM_011535203.1:c.91_93delinsAGA XP_011533505.1:p.Trp31Arg
XM_011535204.1:c.91_93delinsAGA XP_011533506.1:p.Trp31Arg
XM_011535205.1:c.91_93delinsAGA XP_011533507.1:p.Trp31Arg