Canonical Allele Identifier: CA3261215909
Community Standard Title: NM_000059.4(BRCA2):c.9302_9303delinsCA (p.Leu3101Pro)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394734_32394735delinsCA , CM000675.2:g.32394734_32394735delinsCA GRCh38
NC_000013.10:g.32968871_32968872delinsCA , CM000675.1:g.32968871_32968872delinsCA GRCh37
NC_000013.9:g.31866871_31866872delinsCA NCBI36
NG_012772.3:g.84255_84256delinsCA , LRG_293:g.84255_84256delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9302_9303delinsCA MANE Select NP_000050.3:p.Leu3101Pro
ENST00000380152.8:c.9302_9303delinsCA MANE Select ENSP00000369497.3:p.Leu3101Pro
NM_000059.3:c.9302_9303delinsCA , LRG_293t1:c.9302_9303delinsCA NP_000050.2:p.Leu3101Pro
ENST00000380152.7:c.9302_9303delinsCA ENSP00000369497.3:p.Leu3101Pro
ENST00000470094.1:c.259_260delinsCA
ENST00000470094.2:c.9302_9303delinsCA ENSP00000434898.2:p.Leu3101Pro
ENST00000528762.2:c.*669_*670delinsCA ENSP00000433168.2:n.*669_*670delinsCA
ENST00000530893.7:c.8933_8934delinsCA ENSP00000499438.2:p.Leu2978Pro
ENST00000544455.5:c.9302_9303delinsCA ENSP00000439902.1:p.Leu3101Pro
ENST00000544455.6:c.9302_9303delinsCA ENSP00000439902.1:p.Leu3101Pro
ENST00000614259.2:c.9310_9311delinsCA ENSP00000506251.1:n.9310_9311delinsCA
ENST00000665585.1:c.2180_2181delinsCA
ENST00000665585.2:c.*864_*865delinsCA ENSP00000499570.2:n.*864_*865delinsCA
ENST00000666593.1:c.324_325delinsCA ENSP00000499256.1:n.324_325delinsCA
ENST00000666593.2:c.*147_*148delinsCA ENSP00000499256.2:n.*147_*148delinsCA
ENST00000680887.1:c.9302_9303delinsCA ENSP00000505508.1:p.Leu3101Pro
ENST00000700202.1:c.1718_1719delinsCA ENSP00000514856.1:p.Leu573Pro
ENST00000700202.2:c.9251_9252delinsCA ENSP00000514856.2:p.Leu3084Pro
ENST00000700203.1:n.1429_1430delinsCA
XM_011535203.1:c.9302_9303delinsCA XP_011533505.1:p.Leu3101Pro
XM_011535204.1:c.9206_9207delinsCA XP_011533506.1:p.Leu3069Pro