Canonical Allele Identifier: CA915946926
Community Standard Title: NM_000059.4(BRCA2):c.71_72insTTTTTTT (p.Leu24PhefsTer9)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319080_32319081insTTTTTTT , CM000675.2:g.32319080_32319081insTTTTTTT GRCh38
NC_000013.10:g.32893217_32893218insTTTTTTT , CM000675.1:g.32893217_32893218insTTTTTTT GRCh37
NC_000013.9:g.31791217_31791218insTTTTTTT NCBI36
NG_012772.3:g.8601_8602insTTTTTTT , LRG_293:g.8601_8602insTTTTTTT
NG_017006.2:g.1286_1287insAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.71_72insTTTTTTT MANE Select NP_000050.3:p.Leu24PhefsTer9
ENST00000380152.8:c.71_72insTTTTTTT MANE Select ENSP00000369497.3:p.Leu24PhefsTer9
NM_000059.3:c.71_72insTTTTTTT , LRG_293t1:c.71_72insTTTTTTT NP_000050.2:p.Leu24PhefsTer9
ENST00000380152.7:c.71_72insTTTTTTT ENSP00000369497.3:p.Leu24PhefsTer9
ENST00000470094.2:c.71_72insTTTTTTT ENSP00000434898.2:p.Leu24PhefsTer9
ENST00000528762.2:c.71_72insTTTTTTT ENSP00000433168.2:p.Leu24PhefsTer9
ENST00000530893.6:n.269_270insTTTTTTT
ENST00000530893.7:c.-299_-298insTTTTTTT ENSP00000499438.2:n.-299_-298insTTTTTTT
ENST00000544455.5:c.71_72insTTTTTTT ENSP00000439902.1:p.Leu24PhefsTer9
ENST00000544455.6:c.71_72insTTTTTTT ENSP00000439902.1:p.Leu24PhefsTer9
ENST00000614259.1:n.71_72insTTTTTTT
ENST00000614259.2:c.71_72insTTTTTTT ENSP00000506251.1:p.Leu24PhefsTer9
ENST00000665585.2:c.71_72insTTTTTTT ENSP00000499570.2:p.Leu24PhefsTer9
ENST00000666593.2:c.71_72insTTTTTTT ENSP00000499256.2:p.Leu24PhefsTer9
ENST00000680887.1:c.71_72insTTTTTTT ENSP00000505508.1:p.Leu24PhefsTer9
ENST00000700200.1:n.191+2553_191+2554insTTTTTTT
ENST00000700201.1:c.71_72insTTTTTTT ENSP00000514855.1:p.Leu24PhefsTer9
ENST00000700202.2:c.71_72insTTTTTTT ENSP00000514856.2:p.Leu24PhefsTer9
XM_011535203.1:c.71_72insTTTTTTT XP_011533505.1:p.Leu24PhefsTer9
XM_011535204.1:c.71_72insTTTTTTT XP_011533506.1:p.Leu24PhefsTer9
XM_011535205.1:c.71_72insTTTTTTT XP_011533507.1:p.Leu24PhefsTer9