Canonical Allele Identifier: CA16620426
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419246
dbSNP Id: rs1064793746

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43090992del , CM000679.2:g.43090992del GRCh38
NC_000017.10:g.41243009del , CM000679.1:g.41243009del GRCh37
NC_000017.9:g.38496535del NCBI36
NG_005905.2:g.126992del , LRG_292:g.126992del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4137del ENSP00000417241.2:p.Glu1380LysfsTer13
ENST00000470026.6:c.4137del ENSP00000419274.2:p.Glu1380LysfsTer13
ENST00000473961.6:c.4011del ENSP00000420201.2:p.Glu1338LysfsTer13
ENST00000476777.6:c.4134del ENSP00000417554.2:p.Glu1379LysfsTer13
ENST00000477152.6:c.4059del ENSP00000419988.2:p.Glu1354LysfsTer13
ENST00000478531.6:c.825del ENSP00000420412.2:p.Glu276LysfsTer13
ENST00000489037.2:c.4059del ENSP00000420781.2:p.Glu1354LysfsTer13
ENST00000493919.6:c.687del ENSP00000418819.2:p.Glu230LysfsTer13
ENST00000494123.6:c.4137del ENSP00000419103.2:p.Glu1380LysfsTer13
ENST00000497488.2:c.3249del ENSP00000418986.2:p.Glu1084LysfsTer13
ENST00000618469.2:c.4137del ENSP00000478114.2:p.Glu1380LysfsTer13
ENST00000634433.2:c.4014del ENSP00000489431.2:p.Glu1339LysfsTer13
ENST00000644379.2:c.4137del ENSP00000496570.2:p.Glu1380LysfsTer13
ENST00000644555.2:c.687del ENSP00000494614.2:p.Glu230LysfsTer13
ENST00000652672.2:c.3996del ENSP00000498906.2:p.Glu1333LysfsTer13
ENST00000484087.6:c.705del ENSP00000419481.2:p.Glu236LysfsTer13
ENST00000700182.1:c.747del ENSP00000514849.1:p.Glu250LysfsTer13
ENST00000357654.9:c.4137del MANE Select ENSP00000350283.3:p.Glu1380LysfsTer13
ENST00000471181.7:c.4137del ENSP00000418960.2:p.Glu1380LysfsTer13
ENST00000644379.1:c.458del
ENST00000352993.7:c.711del ENSP00000312236.5:p.Glu238LysfsTer13
ENST00000357654.7:c.4137del ENSP00000350283.3:p.Glu1380LysfsTer13
ENST00000461221.5:c.*3920del ENSP00000418548.1:n.*3920del
ENST00000461574.1:c.431del
ENST00000468300.5:c.828del ENSP00000417148.1:p.Glu277LysfsTer13
ENST00000471181.6:c.4137del ENSP00000418960.2:p.Glu1380LysfsTer13
ENST00000478531.5:c.825del ENSP00000420412.1:p.Glu276LysfsTer13
ENST00000484087.5:c.450del ENSP00000419481.1:p.Glu151LysfsTer13
ENST00000487825.5:c.453del ENSP00000418212.1:p.Glu152LysfsTer13
ENST00000491747.6:c.828del ENSP00000420705.2:p.Glu277LysfsTer13
ENST00000493795.5:c.3996del ENSP00000418775.1:p.Glu1333LysfsTer13
ENST00000493919.5:c.687del ENSP00000418819.1:p.Glu230LysfsTer13
ENST00000586385.5:c.5-27041del ENSP00000465818.1:n.5-27041del
ENST00000591534.5:c.-43-16471del ENSP00000467329.1:n.-43-16471del
ENST00000591849.5:c.-99+34279del ENSP00000465347.1:n.-99+34279del
NM_007294.3:c.4137del , LRG_292t1:c.4137del NP_009225.1:p.Glu1380LysfsTer13
NM_007297.3:c.3996del NP_009228.2:p.Glu1333LysfsTer13
NM_007298.3:c.828del NP_009229.2:p.Glu277LysfsTer13
NM_007299.3:c.828del NP_009230.2:p.Glu277LysfsTer13
NM_007300.3:c.4137del NP_009231.2:p.Glu1380LysfsTer13
NR_027676.1:n.4273del
NM_007294.4:c.4137del MANE Select NP_009225.1:p.Glu1380LysfsTer13
NM_007297.4:c.3996del NP_009228.2:p.Glu1333LysfsTer13
NM_007299.4:c.828del NP_009230.2:p.Glu277LysfsTer13
NM_007300.4:c.4137del NP_009231.2:p.Glu1380LysfsTer13
NR_027676.2:n.4314del