Canonical Allele Identifier: CA001500

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54510
• ClinVar RCV Id: RCV001565131 ; RCV002257393
• dbSNP Id: rs80357650
• gnomAD v4: 17-43093289-TG-T
• MyVariant Identifiers: chr17:g.41245307del (hg19) ; chr17:g.43093290del (hg38)
• PubMed: PMID:16758124 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093293del , CM000679.2:g.43093293del	GRCh38
NC_000017.10:g.41245310del , CM000679.1:g.41245310del	GRCh37
NC_000017.9:g.38498836del	NCBI36
NG_005905.2:g.124694del , LRG_292:g.124694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2305del
ENST00000461574.2:c.2241del	ENSP00000417241.2:p.Asp749IlefsTer4
ENST00000470026.6:c.2241del	ENSP00000419274.2:p.Asp749IlefsTer4
ENST00000473961.6:c.2115del	ENSP00000420201.2:p.Asp707IlefsTer4
ENST00000476777.6:c.2238del	ENSP00000417554.2:p.Asp748IlefsTer4
ENST00000477152.6:c.2163del	ENSP00000419988.2:p.Asp723IlefsTer4
ENST00000478531.6:c.784+1454del	ENSP00000420412.2:n.784+1454del
ENST00000489037.2:c.2163del	ENSP00000420781.2:p.Asp723IlefsTer4
ENST00000493919.6:c.646+1454del	ENSP00000418819.2:n.646+1454del
ENST00000494123.6:c.2241del	ENSP00000419103.2:p.Asp749IlefsTer4
ENST00000497488.2:c.1353del	ENSP00000418986.2:p.Asp453IlefsTer4
ENST00000618469.2:c.2241del	ENSP00000478114.2:p.Asp749IlefsTer4
ENST00000634433.2:c.2118del	ENSP00000489431.2:p.Asp708IlefsTer4
ENST00000644379.2:c.2241del	ENSP00000496570.2:p.Asp749IlefsTer4
ENST00000644555.2:c.646+1454del	ENSP00000494614.2:n.646+1454del
ENST00000652672.2:c.2100del	ENSP00000498906.2:p.Asp702IlefsTer4
ENST00000484087.6:c.664+1454del	ENSP00000419481.2:n.664+1454del
ENST00000700182.1:c.706+1454del	ENSP00000514849.1:n.706+1454del
ENST00000357654.9:c.2241del MANE Select	ENSP00000350283.3:p.Asp749IlefsTer4
ENST00000471181.7:c.2241del	ENSP00000418960.2:p.Asp749IlefsTer4
ENST00000352993.7:c.671-2258del	ENSP00000312236.5:n.671-2258del
ENST00000354071.7:c.2241del	ENSP00000326002.7:p.Asp749IlefsTer4
ENST00000357654.7:c.2241del	ENSP00000350283.3:p.Asp749IlefsTer4
ENST00000461221.5:c.*2024del	ENSP00000418548.1:n.*2024del
ENST00000468300.5:c.787+1454del	ENSP00000417148.1:n.787+1454del
ENST00000471181.6:c.2241del	ENSP00000418960.2:p.Asp749IlefsTer4
ENST00000478531.5:c.784+1454del	ENSP00000420412.1:n.784+1454del
ENST00000484087.5:c.409+1454del	ENSP00000419481.1:n.409+1454del
ENST00000487825.5:c.412+1454del	ENSP00000418212.1:n.412+1454del
ENST00000491747.6:c.787+1454del	ENSP00000420705.2:n.787+1454del
ENST00000493795.5:c.2100del	ENSP00000418775.1:p.Asp702IlefsTer4
ENST00000493919.5:c.646+1454del	ENSP00000418819.1:n.646+1454del
ENST00000586385.5:c.5-29339del	ENSP00000465818.1:n.5-29339del
ENST00000591534.5:c.-43-18769del	ENSP00000467329.1:n.-43-18769del
ENST00000591849.5:c.-99+31981del	ENSP00000465347.1:n.-99+31981del
ENST00000634433.1:c.2118del	ENSP00000489431.1:p.Asp708IlefsTer4
NM_007294.3:c.2241del , LRG_292t1:c.2241del	NP_009225.1:p.Asp749IlefsTer4
NM_007297.3:c.2100del	NP_009228.2:p.Asp702IlefsTer4
NM_007298.3:c.787+1454del	NP_009229.2:n.787+1454del
NM_007299.3:c.787+1454del	NP_009230.2:n.787+1454del
NM_007300.3:c.2241del	NP_009231.2:p.Asp749IlefsTer4
NR_027676.1:n.2377del
NM_007294.4:c.2241del MANE Select	NP_009225.1:p.Asp749IlefsTer4
NM_007297.4:c.2100del	NP_009228.2:p.Asp702IlefsTer4
NM_007299.4:c.787+1454del	NP_009230.2:n.787+1454del
NM_007300.4:c.2241del	NP_009231.2:p.Asp749IlefsTer4
NR_027676.2:n.2418del