Canonical Allele Identifier: CA002353

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54961
• ClinVar RCV Id: RCV003476954 ; RCV003529963
• dbSNP Id: rs80357671
• MyVariant Identifiers: chr17:g.41243869_41243872del (hg19) ; chr17:g.43091852_43091855del (hg38)
• PubMed: PMID:16683254

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
ENST00000354071.8:n.3740_3743del
ENST00000461574.2:c.3676_3679del	ENSP00000417241.2:p.Phe1226AsnfsTer8
ENST00000470026.6:c.3676_3679del	ENSP00000419274.2:p.Phe1226AsnfsTer8
ENST00000473961.6:c.3550_3553del	ENSP00000420201.2:p.Phe1184AsnfsTer8
ENST00000476777.6:c.3673_3676del	ENSP00000417554.2:p.Phe1225AsnfsTer8
ENST00000477152.6:c.3598_3601del	ENSP00000419988.2:p.Phe1200AsnfsTer8
ENST00000478531.6:c.785-823_785-820del	ENSP00000420412.2:n.785-823_785-820del
ENST00000489037.2:c.3598_3601del	ENSP00000420781.2:p.Phe1200AsnfsTer8
ENST00000493919.6:c.647-823_647-820del	ENSP00000418819.2:n.647-823_647-820del
ENST00000494123.6:c.3676_3679del	ENSP00000419103.2:p.Phe1226AsnfsTer8
ENST00000497488.2:c.2788_2791del	ENSP00000418986.2:p.Phe930AsnfsTer8
ENST00000618469.2:c.3676_3679del	ENSP00000478114.2:p.Phe1226AsnfsTer8
ENST00000634433.2:c.3553_3556del	ENSP00000489431.2:p.Phe1185AsnfsTer8
ENST00000644379.2:c.3676_3679del	ENSP00000496570.2:p.Phe1226AsnfsTer8
ENST00000644555.2:c.647-823_647-820del	ENSP00000494614.2:n.647-823_647-820del
ENST00000652672.2:c.3535_3538del	ENSP00000498906.2:p.Phe1179AsnfsTer8
ENST00000484087.6:c.665-823_665-820del	ENSP00000419481.2:n.665-823_665-820del
ENST00000700182.1:c.707-823_707-820del	ENSP00000514849.1:n.707-823_707-820del
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:n.671-823_671-820del
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:n.*3459_*3462del
ENST00000468300.5:c.788-823_788-820del	ENSP00000417148.1:n.788-823_788-820del
ENST00000471181.6:c.3676_3679del	ENSP00000418960.2:p.Phe1226AsnfsTer8
ENST00000478531.5:c.785-823_785-820del	ENSP00000420412.1:n.785-823_785-820del
ENST00000484087.5:c.410-823_410-820del	ENSP00000419481.1:n.410-823_410-820del
ENST00000487825.5:c.413-823_413-820del	ENSP00000418212.1:n.413-823_413-820del
ENST00000491747.6:c.788-823_788-820del	ENSP00000420705.2:n.788-823_788-820del
ENST00000493795.5:c.3535_3538del	ENSP00000418775.1:p.Phe1179AsnfsTer8
ENST00000493919.5:c.647-823_647-820del	ENSP00000418819.1:n.647-823_647-820del
ENST00000586385.5:c.5-27904_5-27901del	ENSP00000465818.1:n.5-27904_5-27901del
ENST00000591534.5:c.-43-17334_-43-17331del	ENSP00000467329.1:n.-43-17334_-43-17331de...
ENST00000591849.5:c.-99+33416_-99+33419del	ENSP00000465347.1:n.-99+33416_-99+33419de...
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:n.788-823_788-820del
NM_007299.3:c.788-823_788-820del	NP_009230.2:n.788-823_788-820del
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:n.788-823_788-820del
NM_007300.4:c.3676_3679del	NP_009231.2:p.Phe1226AsnfsTer8
NR_027676.2:n.3853_3856del