Canonical Allele Identifier: CA2825002538

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3072258
• ClinVar RCV Id: RCV004012288

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093273_43093275del , CM000679.2:g.43093273_43093275del	GRCh38
NC_000017.10:g.41245290_41245292del , CM000679.1:g.41245290_41245292del	GRCh37
NC_000017.9:g.38498816_38498818del	NCBI36
NG_005905.2:g.124709_124711del , LRG_292:g.124709_124711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2320_2322del
ENST00000461574.2:c.2256_2258del	ENSP00000417241.2:p.Leu752_Ser753delinsPhe
ENST00000470026.6:c.2256_2258del	ENSP00000419274.2:p.Leu752_Ser753delinsPhe
ENST00000473961.6:c.2130_2132del	ENSP00000420201.2:p.Leu710_Ser711delinsPhe
ENST00000476777.6:c.2253_2255del	ENSP00000417554.2:p.Leu751_Ser752delinsPhe
ENST00000477152.6:c.2178_2180del	ENSP00000419988.2:p.Leu726_Ser727delinsPhe
ENST00000478531.6:c.784+1469_784+1471del	ENSP00000420412.2:n.784+1469_784+1471del
ENST00000489037.2:c.2178_2180del	ENSP00000420781.2:p.Leu726_Ser727delinsPhe
ENST00000493919.6:c.646+1469_646+1471del	ENSP00000418819.2:n.646+1469_646+1471del
ENST00000494123.6:c.2256_2258del	ENSP00000419103.2:p.Leu752_Ser753delinsPhe
ENST00000497488.2:c.1368_1370del	ENSP00000418986.2:p.Leu456_Ser457delinsPhe
ENST00000618469.2:c.2256_2258del	ENSP00000478114.2:p.Leu752_Ser753delinsPhe
ENST00000634433.2:c.2133_2135del	ENSP00000489431.2:p.Leu711_Ser712delinsPhe
ENST00000644379.2:c.2256_2258del	ENSP00000496570.2:p.Leu752_Ser753delinsPhe
ENST00000644555.2:c.646+1469_646+1471del	ENSP00000494614.2:n.646+1469_646+1471del
ENST00000652672.2:c.2115_2117del	ENSP00000498906.2:p.Leu705_Ser706delinsPhe
ENST00000484087.6:c.664+1469_664+1471del	ENSP00000419481.2:n.664+1469_664+1471del
ENST00000700182.1:c.706+1469_706+1471del	ENSP00000514849.1:n.706+1469_706+1471del
ENST00000357654.9:c.2256_2258del MANE Select	ENSP00000350283.3:p.Leu752_Ser753delinsPhe
ENST00000471181.7:c.2256_2258del	ENSP00000418960.2:p.Leu752_Ser753delinsPhe
ENST00000352993.7:c.671-2243_671-2241del	ENSP00000312236.5:n.671-2243_671-2241del
ENST00000354071.7:c.2256_2258del	ENSP00000326002.7:p.Leu752_Ser753delinsPhe
ENST00000357654.7:c.2256_2258del	ENSP00000350283.3:p.Leu752_Ser753delinsPhe
ENST00000461221.5:c.*2039_*2041del	ENSP00000418548.1:n.*2039_*2041del
ENST00000468300.5:c.787+1469_787+1471del	ENSP00000417148.1:n.787+1469_787+1471del
ENST00000471181.6:c.2256_2258del	ENSP00000418960.2:p.Leu752_Ser753delinsPhe
ENST00000478531.5:c.784+1469_784+1471del	ENSP00000420412.1:n.784+1469_784+1471del
ENST00000484087.5:c.409+1469_409+1471del	ENSP00000419481.1:n.409+1469_409+1471del
ENST00000487825.5:c.412+1469_412+1471del	ENSP00000418212.1:n.412+1469_412+1471del
ENST00000491747.6:c.787+1469_787+1471del	ENSP00000420705.2:n.787+1469_787+1471del
ENST00000493795.5:c.2115_2117del	ENSP00000418775.1:p.Leu705_Ser706delinsPhe
ENST00000493919.5:c.646+1469_646+1471del	ENSP00000418819.1:n.646+1469_646+1471del
ENST00000586385.5:c.5-29324_5-29322del	ENSP00000465818.1:n.5-29324_5-29322del
ENST00000591534.5:c.-43-18754_-43-18752del	ENSP00000467329.1:n.-43-18754_-43-18752del
ENST00000591849.5:c.-99+31996_-99+31998del	ENSP00000465347.1:n.-99+31996_-99+31998del
ENST00000634433.1:c.2133_2135del	ENSP00000489431.1:p.Leu711_Ser712delinsPhe
NM_007294.3:c.2256_2258del , LRG_292t1:c.2256_2258del	NP_009225.1:p.Leu752_Ser753delinsPhe
NM_007297.3:c.2115_2117del	NP_009228.2:p.Leu705_Ser706delinsPhe
NM_007298.3:c.787+1469_787+1471del	NP_009229.2:n.787+1469_787+1471del
NM_007299.3:c.787+1469_787+1471del	NP_009230.2:n.787+1469_787+1471del
NM_007300.3:c.2256_2258del	NP_009231.2:p.Leu752_Ser753delinsPhe
NR_027676.1:n.2392_2394del
NM_007294.4:c.2256_2258del MANE Select	NP_009225.1:p.Leu752_Ser753delinsPhe
NM_007297.4:c.2115_2117del	NP_009228.2:p.Leu705_Ser706delinsPhe
NM_007299.4:c.787+1469_787+1471del	NP_009230.2:n.787+1469_787+1471del
NM_007300.4:c.2256_2258del	NP_009231.2:p.Leu752_Ser753delinsPhe
NR_027676.2:n.2433_2435del