Canonical Allele Identifier: CA3261216017
Community Standard Title: NM_000059.4(BRCA2):c.9155_9156delinsTC (p.Arg3052Leu)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380044_32380045delinsTC , CM000675.2:g.32380044_32380045delinsTC GRCh38
NC_000013.10:g.32954181_32954182delinsTC , CM000675.1:g.32954181_32954182delinsTC GRCh37
NC_000013.9:g.31852181_31852182delinsTC NCBI36
NG_012772.3:g.69565_69566delinsTC , LRG_293:g.69565_69566delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9155_9156delinsTC MANE Select NP_000050.3:p.Arg3052Leu
ENST00000380152.8:c.9155_9156delinsTC MANE Select ENSP00000369497.3:p.Arg3052Leu
NM_000059.3:c.9155_9156delinsTC , LRG_293t1:c.9155_9156delinsTC NP_000050.2:p.Arg3052Leu
ENST00000380152.7:c.9155_9156delinsTC ENSP00000369497.3:p.Arg3052Leu
ENST00000470094.1:c.112_113delinsTC
ENST00000470094.2:c.9155_9156delinsTC ENSP00000434898.2:p.Arg3052Leu
ENST00000528762.2:c.*522_*523delinsTC ENSP00000433168.2:n.*522_*523delinsTC
ENST00000530893.7:c.8786_8787delinsTC ENSP00000499438.2:p.Arg2929Leu
ENST00000544455.5:c.9155_9156delinsTC ENSP00000439902.1:p.Arg3052Leu
ENST00000544455.6:c.9155_9156delinsTC ENSP00000439902.1:p.Arg3052Leu
ENST00000614259.2:c.9163_9164delinsTC ENSP00000506251.1:n.9163_9164delinsTC
ENST00000665585.1:c.2033_2034delinsTC
ENST00000665585.2:c.*717_*718delinsTC ENSP00000499570.2:n.*717_*718delinsTC
ENST00000666593.1:c.38_39delinsTC ENSP00000499256.1:p.Arg13Leu
ENST00000666593.2:c.9155_9156delinsTC ENSP00000499256.2:p.Arg3052Leu
ENST00000680887.1:c.9155_9156delinsTC ENSP00000505508.1:p.Arg3052Leu
ENST00000700202.1:c.1571_1572delinsTC ENSP00000514856.1:p.Arg524Leu
ENST00000700202.2:c.9104_9105delinsTC ENSP00000514856.2:p.Arg3035Leu
ENST00000700203.1:n.1282_1283delinsTC
XM_011535203.1:c.9155_9156delinsTC XP_011533505.1:p.Arg3052Leu
XM_011535204.1:c.9059_9060delinsTC XP_011533506.1:p.Arg3020Leu