Canonical Allele Identifier: CA2580094057

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2438107
• ClinVar RCV Id: RCV003137272

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093220_43093223delinsGTG , CM000679.2:g.43093220_43093223delinsGTG	GRCh38
NC_000017.10:g.41245237_41245240delinsGTG , CM000679.1:g.41245237_41245240delinsGTG	GRCh37
NC_000017.9:g.38498763_38498766delinsGTG	NCBI36
NG_005905.2:g.124761_124764delinsCAC , LRG_292:g.124761_124764delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2372_2375delinsCAC
ENST00000461574.2:c.2308_2311delinsCAC	ENSP00000417241.2:p.Ser770HisfsTer22
ENST00000470026.6:c.2308_2311delinsCAC	ENSP00000419274.2:p.Ser770HisfsTer22
ENST00000473961.6:c.2182_2185delinsCAC	ENSP00000420201.2:p.Ser728HisfsTer22
ENST00000476777.6:c.2305_2308delinsCAC	ENSP00000417554.2:p.Ser769HisfsTer22
ENST00000477152.6:c.2230_2233delinsCAC	ENSP00000419988.2:p.Ser744HisfsTer22
ENST00000478531.6:c.784+1521_784+1524delinsCAC	ENSP00000420412.2:n.784+1521_784+1524delinsCAC
ENST00000489037.2:c.2230_2233delinsCAC	ENSP00000420781.2:p.Ser744HisfsTer22
ENST00000493919.6:c.646+1521_646+1524delinsCAC	ENSP00000418819.2:n.646+1521_646+1524delinsCAC
ENST00000494123.6:c.2308_2311delinsCAC	ENSP00000419103.2:p.Ser770HisfsTer22
ENST00000497488.2:c.1420_1423delinsCAC	ENSP00000418986.2:p.Ser474HisfsTer22
ENST00000618469.2:c.2308_2311delinsCAC	ENSP00000478114.2:p.Ser770HisfsTer22
ENST00000634433.2:c.2185_2188delinsCAC	ENSP00000489431.2:p.Ser729HisfsTer22
ENST00000644379.2:c.2308_2311delinsCAC	ENSP00000496570.2:p.Ser770HisfsTer22
ENST00000644555.2:c.646+1521_646+1524delinsCAC	ENSP00000494614.2:n.646+1521_646+1524delinsCAC
ENST00000652672.2:c.2167_2170delinsCAC	ENSP00000498906.2:p.Ser723HisfsTer22
ENST00000484087.6:c.664+1521_664+1524delinsCAC	ENSP00000419481.2:n.664+1521_664+1524delinsCAC
ENST00000700182.1:c.706+1521_706+1524delinsCAC	ENSP00000514849.1:n.706+1521_706+1524delinsCAC
ENST00000357654.9:c.2308_2311delinsCAC MANE Select	ENSP00000350283.3:p.Ser770HisfsTer22
ENST00000471181.7:c.2308_2311delinsCAC	ENSP00000418960.2:p.Ser770HisfsTer22
ENST00000352993.7:c.671-2191_671-2188delinsCAC	ENSP00000312236.5:n.671-2191_671-2188delinsCAC
ENST00000354071.7:c.2308_2311delinsCAC	ENSP00000326002.7:p.Ser770HisfsTer22
ENST00000357654.7:c.2308_2311delinsCAC	ENSP00000350283.3:p.Ser770HisfsTer22
ENST00000461221.5:c.*2091_*2094delinsCAC	ENSP00000418548.1:n.*2091_*2094delinsCAC
ENST00000468300.5:c.787+1521_787+1524delinsCAC	ENSP00000417148.1:n.787+1521_787+1524delinsCAC
ENST00000471181.6:c.2308_2311delinsCAC	ENSP00000418960.2:p.Ser770HisfsTer22
ENST00000478531.5:c.784+1521_784+1524delinsCAC	ENSP00000420412.1:n.784+1521_784+1524delinsCAC
ENST00000484087.5:c.409+1521_409+1524delinsCAC	ENSP00000419481.1:n.409+1521_409+1524delinsCAC
ENST00000487825.5:c.412+1521_412+1524delinsCAC	ENSP00000418212.1:n.412+1521_412+1524delinsCAC
ENST00000491747.6:c.787+1521_787+1524delinsCAC	ENSP00000420705.2:n.787+1521_787+1524delinsCAC
ENST00000493795.5:c.2167_2170delinsCAC	ENSP00000418775.1:p.Ser723HisfsTer22
ENST00000493919.5:c.646+1521_646+1524delinsCAC	ENSP00000418819.1:n.646+1521_646+1524delinsCAC
ENST00000586385.5:c.5-29272_5-29269delinsCAC	ENSP00000465818.1:n.5-29272_5-29269delinsCAC
ENST00000591534.5:c.-43-18702_-43-18699delinsCAC	ENSP00000467329.1:n.-43-18702_-43-18699delinsCAC
ENST00000591849.5:c.-99+32048_-99+32051delinsCAC	ENSP00000465347.1:n.-99+32048_-99+32051delinsCAC
ENST00000634433.1:c.2185_2188delinsCAC	ENSP00000489431.1:p.Ser729HisfsTer22
NM_007294.3:c.2308_2311delinsCAC , LRG_292t1:c.2308_2311delinsCAC	NP_009225.1:p.Ser770HisfsTer22
NM_007297.3:c.2167_2170delinsCAC	NP_009228.2:p.Ser723HisfsTer22
NM_007298.3:c.787+1521_787+1524delinsCAC	NP_009229.2:n.787+1521_787+1524delinsCAC
NM_007299.3:c.787+1521_787+1524delinsCAC	NP_009230.2:n.787+1521_787+1524delinsCAC
NM_007300.3:c.2308_2311delinsCAC	NP_009231.2:p.Ser770HisfsTer22
NR_027676.1:n.2444_2447delinsCAC
NM_007294.4:c.2308_2311delinsCAC MANE Select	NP_009225.1:p.Ser770HisfsTer22
NM_007297.4:c.2167_2170delinsCAC	NP_009228.2:p.Ser723HisfsTer22
NM_007299.4:c.787+1521_787+1524delinsCAC	NP_009230.2:n.787+1521_787+1524delinsCAC
NM_007300.4:c.2308_2311delinsCAC	NP_009231.2:p.Ser770HisfsTer22
NR_027676.2:n.2485_2488delinsCAC