Canonical Allele Identifier: CA3261215979
Community Standard Title: NM_000059.4(BRCA2):c.9371_9372delinsTT (p.Asn3124Ile)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394803_32394804delinsTT , CM000675.2:g.32394803_32394804delinsTT GRCh38
NC_000013.10:g.32968940_32968941delinsTT , CM000675.1:g.32968940_32968941delinsTT GRCh37
NC_000013.9:g.31866940_31866941delinsTT NCBI36
NG_012772.3:g.84324_84325delinsTT , LRG_293:g.84324_84325delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9371_9372delinsTT MANE Select NP_000050.3:p.Asn3124Ile
ENST00000380152.8:c.9371_9372delinsTT MANE Select ENSP00000369497.3:p.Asn3124Ile
NM_000059.3:c.9371_9372delinsTT , LRG_293t1:c.9371_9372delinsTT NP_000050.2:p.Asn3124Ile
ENST00000380152.7:c.9371_9372delinsTT ENSP00000369497.3:p.Asn3124Ile
ENST00000470094.1:c.328_329delinsTT
ENST00000470094.2:c.9371_9372delinsTT ENSP00000434898.2:p.Asn3124Ile
ENST00000528762.2:c.*738_*739delinsTT ENSP00000433168.2:n.*738_*739delinsTT
ENST00000530893.7:c.9002_9003delinsTT ENSP00000499438.2:p.Asn3001Ile
ENST00000544455.5:c.9371_9372delinsTT ENSP00000439902.1:p.Asn3124Ile
ENST00000544455.6:c.9371_9372delinsTT ENSP00000439902.1:p.Asn3124Ile
ENST00000614259.2:c.9379_9380delinsTT ENSP00000506251.1:n.9379_9380delinsTT
ENST00000665585.1:c.2249_2250delinsTT
ENST00000665585.2:c.*933_*934delinsTT ENSP00000499570.2:n.*933_*934delinsTT
ENST00000666593.1:c.393_394delinsTT ENSP00000499256.1:n.393_394delinsTT
ENST00000666593.2:c.*216_*217delinsTT ENSP00000499256.2:n.*216_*217delinsTT
ENST00000680887.1:c.9371_9372delinsTT ENSP00000505508.1:p.Asn3124Ile
ENST00000700202.1:c.1787_1788delinsTT ENSP00000514856.1:p.Asn596Ile
ENST00000700202.2:c.9320_9321delinsTT ENSP00000514856.2:p.Asn3107Ile
ENST00000700203.1:n.1498_1499delinsTT
XM_011535203.1:c.9371_9372delinsTT XP_011533505.1:p.Asn3124Ile
XM_011535204.1:c.9275_9276delinsTT XP_011533506.1:p.Asn3092Ile