Canonical Allele Identifier: CA16615693
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409361
dbSNP Id: rs1060502360

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094788del , CM000679.2:g.43094788del GRCh38
NC_000017.10:g.41246805del , CM000679.1:g.41246805del GRCh37
NC_000017.9:g.38500331del NCBI36
NG_005905.2:g.123197del , LRG_292:g.123197del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.808del
ENST00000461574.2:c.744del ENSP00000417241.2:p.Thr249LeufsTer?
ENST00000470026.6:c.744del ENSP00000419274.2:p.Thr249LeufsTer?
ENST00000473961.6:c.618del ENSP00000420201.2:p.Thr207LeufsTer?
ENST00000476777.6:c.741del ENSP00000417554.2:p.Thr248LeufsTer?
ENST00000477152.6:c.666del ENSP00000419988.2:p.Thr223LeufsTer?
ENST00000478531.6:c.741del ENSP00000420412.2:p.Thr248LeufsTer?
ENST00000489037.2:c.666del ENSP00000420781.2:p.Thr223LeufsTer?
ENST00000493919.6:c.603del ENSP00000418819.2:p.Thr202LeufsTer?
ENST00000494123.6:c.744del ENSP00000419103.2:p.Thr249LeufsTer?
ENST00000497488.2:c.-145del ENSP00000418986.2:n.-145del
ENST00000618469.2:c.744del ENSP00000478114.2:p.Thr249LeufsTer?
ENST00000634433.2:c.621del ENSP00000489431.2:p.Thr208LeufsTer?
ENST00000644379.2:c.744del ENSP00000496570.2:p.Thr249LeufsTer?
ENST00000644555.2:c.603del ENSP00000494614.2:p.Thr202LeufsTer?
ENST00000652672.2:c.603del ENSP00000498906.2:p.Thr202LeufsTer?
ENST00000484087.6:c.621del ENSP00000419481.2:p.Thr208LeufsTer?
ENST00000700182.1:c.663del ENSP00000514849.1:p.Thr222LeufsTer?
ENST00000700183.1:c.*752del ENSP00000514850.1:n.*752del
ENST00000357654.9:c.744del MANE Select ENSP00000350283.3:p.Thr249LeufsTer?
ENST00000471181.7:c.744del ENSP00000418960.2:p.Thr249LeufsTer?
ENST00000642945.1:c.*618del ENSP00000495897.1:n.*618del
ENST00000652672.1:c.603del ENSP00000498906.1:p.Thr202LeufsTer?
ENST00000352993.7:c.670+1059del ENSP00000312236.5:n.670+1059del
ENST00000354071.7:c.744del ENSP00000326002.7:p.Thr249LeufsTer?
ENST00000357654.7:c.744del ENSP00000350283.3:p.Thr249LeufsTer?
ENST00000412061.3:c.95del
ENST00000461221.5:c.*527del ENSP00000418548.1:n.*527del
ENST00000468300.5:c.744del ENSP00000417148.1:p.Thr249LeufsTer?
ENST00000470026.5:c.744del ENSP00000419274.1:p.Thr249LeufsTer?
ENST00000471181.6:c.744del ENSP00000418960.2:p.Thr249LeufsTer?
ENST00000473961.5:c.341del
ENST00000477152.5:c.666del ENSP00000419988.1:p.Thr223LeufsTer?
ENST00000478531.5:c.741del ENSP00000420412.1:p.Thr248LeufsTer?
ENST00000484087.5:c.366del ENSP00000419481.1:p.Thr123LeufsTer?
ENST00000487825.5:c.369del ENSP00000418212.1:p.Thr124LeufsTer?
ENST00000491747.6:c.744del ENSP00000420705.2:p.Thr249LeufsTer?
ENST00000492859.5:c.*680del ENSP00000420253.1:n.*680del
ENST00000493795.5:c.603del ENSP00000418775.1:p.Thr202LeufsTer?
ENST00000493919.5:c.603del ENSP00000418819.1:p.Thr202LeufsTer?
ENST00000494123.5:c.744del ENSP00000419103.1:p.Thr249LeufsTer?
ENST00000497488.1:c.-145del ENSP00000418986.1:n.-145del
ENST00000586385.5:c.4+30395del ENSP00000465818.1:n.4+30395del
ENST00000591534.5:c.-43-20266del ENSP00000467329.1:n.-43-20266del
ENST00000591849.5:c.-99+30484del ENSP00000465347.1:n.-99+30484del
ENST00000634433.1:c.621del ENSP00000489431.1:p.Thr208LeufsTer?
NM_007294.3:c.744del , LRG_292t1:c.744del NP_009225.1:p.Thr249LeufsTer?
NM_007297.3:c.603del NP_009228.2:p.Thr202LeufsTer?
NM_007298.3:c.744del NP_009229.2:p.Thr249LeufsTer?
NM_007299.3:c.744del NP_009230.2:p.Thr249LeufsTer?
NM_007300.3:c.744del NP_009231.2:p.Thr249LeufsTer?
NR_027676.1:n.880del
NM_007294.4:c.744del MANE Select NP_009225.1:p.Thr249LeufsTer?
NM_007297.4:c.603del NP_009228.2:p.Thr202LeufsTer?
NM_007299.4:c.744del NP_009230.2:p.Thr249LeufsTer?
NM_007300.4:c.744del NP_009231.2:p.Thr249LeufsTer?
NR_027676.2:n.921del