Canonical Allele Identifier: CA002353
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54961
ClinVar RCV Id: RCV000112153
dbSNP Id: rs80357671

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091853_43091856del , CM000679.2:g.43091853_43091856del GRCh38
NC_000017.10:g.41243870_41243873del , CM000679.1:g.41243870_41243873del GRCh37
NC_000017.9:g.38497396_38497399del NCBI36
NG_005905.2:g.126129_126132del , LRG_292:g.126129_126132del

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.3676_3679del MANE Select ENSP00000350283.3:p.Phe1226AsnfsTer8
ENST00000471181.7:c.3676_3679del ENSP00000418960.2:p.Phe1226AsnfsTer8
ENST00000352993.7:c.671-823_671-820del ENSP00000312236.5:p.=
ENST00000354071.7:c.3676_3679del ENSP00000326002.7:p.Phe1226AsnfsTer8
ENST00000357654.7:c.3676_3679del ENSP00000350283.3:p.Phe1226AsnfsTer8
ENST00000461221.5:c.*3459_*3462del ENSP00000418548.1:p.=
ENST00000468300.5:c.788-823_788-820del ENSP00000417148.1:p.=
ENST00000471181.6:c.3676_3679del ENSP00000418960.2:p.Phe1226AsnfsTer8
ENST00000478531.5:c.785-823_785-820del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-823_410-820del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-823_413-820del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-823_788-820del ENSP00000420705.2:p.=
ENST00000493795.5:c.3535_3538del ENSP00000418775.1:p.Phe1179AsnfsTer8
ENST00000493919.5:c.647-823_647-820del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27904_5-27901del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-17334_-43-17331del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33416_-99+33419del ENSP00000465347.1:p.=
NM_007294.3:c.3676_3679del , LRG_292t1:c.3676_3679del NP_009225.1:p.Phe1226AsnfsTer8
NM_007297.3:c.3535_3538del NP_009228.2:p.Phe1179AsnfsTer8
NM_007298.3:c.788-823_788-820del NP_009229.2:p.=
NM_007299.3:c.788-823_788-820del NP_009230.2:p.=
NM_007300.3:c.3676_3679del NP_009231.2:p.Phe1226AsnfsTer8
NR_027676.1:n.3812_3815del
NM_007294.4:c.3676_3679del MANE Select NP_009225.1:p.Phe1226AsnfsTer8
NM_007297.4:c.3535_3538del NP_009228.2:p.Phe1179AsnfsTer8
NM_007299.4:c.788-823_788-820del NP_009230.2:p.=
NM_007300.4:c.3676_3679del NP_009231.2:p.Phe1226AsnfsTer8
NR_027676.2:n.3853_3856del