Canonical Allele Identifier: CA10589882

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266230
• ClinVar RCV Id: RCV000256960
• dbSNP Id: rs886040007
• gnomAD v4: 17-43093341-TTCTTC-T
• MyVariant Identifiers: chr17:g.41245359_41245363del (hg19) ; chr17:g.43093342_43093346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093346_43093350del , CM000679.2:g.43093346_43093350del	GRCh38
NC_000017.10:g.41245363_41245367del , CM000679.1:g.41245363_41245367del	GRCh37
NC_000017.9:g.38498889_38498893del	NCBI36
NG_005905.2:g.124638_124642del , LRG_292:g.124638_124642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2249_2253del
ENST00000461574.2:c.2185_2189del	ENSP00000417241.2:p.Glu729LysfsTer9
ENST00000470026.6:c.2185_2189del	ENSP00000419274.2:p.Glu729LysfsTer9
ENST00000473961.6:c.2059_2063del	ENSP00000420201.2:p.Glu687LysfsTer9
ENST00000476777.6:c.2182_2186del	ENSP00000417554.2:p.Glu728LysfsTer9
ENST00000477152.6:c.2107_2111del	ENSP00000419988.2:p.Glu703LysfsTer9
ENST00000478531.6:c.784+1398_784+1402del	ENSP00000420412.2:n.784+1398_784+1402del
ENST00000489037.2:c.2107_2111del	ENSP00000420781.2:p.Glu703LysfsTer9
ENST00000493919.6:c.646+1398_646+1402del	ENSP00000418819.2:n.646+1398_646+1402del
ENST00000494123.6:c.2185_2189del	ENSP00000419103.2:p.Glu729LysfsTer9
ENST00000497488.2:c.1297_1301del	ENSP00000418986.2:p.Glu433LysfsTer9
ENST00000618469.2:c.2185_2189del	ENSP00000478114.2:p.Glu729LysfsTer9
ENST00000634433.2:c.2062_2066del	ENSP00000489431.2:p.Glu688LysfsTer9
ENST00000644379.2:c.2185_2189del	ENSP00000496570.2:p.Glu729LysfsTer9
ENST00000644555.2:c.646+1398_646+1402del	ENSP00000494614.2:n.646+1398_646+1402del
ENST00000652672.2:c.2044_2048del	ENSP00000498906.2:p.Glu682LysfsTer9
ENST00000484087.6:c.664+1398_664+1402del	ENSP00000419481.2:n.664+1398_664+1402del
ENST00000700182.1:c.706+1398_706+1402del	ENSP00000514849.1:n.706+1398_706+1402del
ENST00000357654.9:c.2185_2189del MANE Select	ENSP00000350283.3:p.Glu729LysfsTer9
ENST00000471181.7:c.2185_2189del	ENSP00000418960.2:p.Glu729LysfsTer9
ENST00000352993.7:c.671-2314_671-2310del	ENSP00000312236.5:n.671-2314_671-2310del
ENST00000354071.7:c.2185_2189del	ENSP00000326002.7:p.Glu729LysfsTer9
ENST00000357654.7:c.2185_2189del	ENSP00000350283.3:p.Glu729LysfsTer9
ENST00000461221.5:c.*1968_*1972del	ENSP00000418548.1:n.*1968_*1972del
ENST00000468300.5:c.787+1398_787+1402del	ENSP00000417148.1:n.787+1398_787+1402del
ENST00000471181.6:c.2185_2189del	ENSP00000418960.2:p.Glu729LysfsTer9
ENST00000478531.5:c.784+1398_784+1402del	ENSP00000420412.1:n.784+1398_784+1402del
ENST00000484087.5:c.409+1398_409+1402del	ENSP00000419481.1:n.409+1398_409+1402del
ENST00000487825.5:c.412+1398_412+1402del	ENSP00000418212.1:n.412+1398_412+1402del
ENST00000491747.6:c.787+1398_787+1402del	ENSP00000420705.2:n.787+1398_787+1402del
ENST00000493795.5:c.2044_2048del	ENSP00000418775.1:p.Glu682LysfsTer9
ENST00000493919.5:c.646+1398_646+1402del	ENSP00000418819.1:n.646+1398_646+1402del
ENST00000586385.5:c.5-29395_5-29391del	ENSP00000465818.1:n.5-29395_5-29391del
ENST00000591534.5:c.-43-18825_-43-18821del	ENSP00000467329.1:n.-43-18825_-43-18821del
ENST00000591849.5:c.-99+31925_-99+31929del	ENSP00000465347.1:n.-99+31925_-99+31929del
ENST00000634433.1:c.2062_2066del	ENSP00000489431.1:p.Glu688LysfsTer9
NM_007294.3:c.2185_2189del , LRG_292t1:c.2185_2189del	NP_009225.1:p.Glu729LysfsTer9
NM_007297.3:c.2044_2048del	NP_009228.2:p.Glu682LysfsTer9
NM_007298.3:c.787+1398_787+1402del	NP_009229.2:n.787+1398_787+1402del
NM_007299.3:c.787+1398_787+1402del	NP_009230.2:n.787+1398_787+1402del
NM_007300.3:c.2185_2189del	NP_009231.2:p.Glu729LysfsTer9
NR_027676.1:n.2321_2325del
NM_007294.4:c.2185_2189del MANE Select	NP_009225.1:p.Glu729LysfsTer9
NM_007297.4:c.2044_2048del	NP_009228.2:p.Glu682LysfsTer9
NM_007299.4:c.787+1398_787+1402del	NP_009230.2:n.787+1398_787+1402del
NM_007300.4:c.2185_2189del	NP_009231.2:p.Glu729LysfsTer9
NR_027676.2:n.2362_2366del