Canonical Allele Identifier: CA2499224613

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104152_43104153del , CM000679.2:g.43104152_43104153del	GRCh38
NC_000017.10:g.41256169_41256170del , CM000679.1:g.41256169_41256170del	GRCh37
NC_000017.9:g.38509695_38509696del	NCBI36
NG_005905.2:g.113831_113832del , LRG_292:g.113831_113832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.474_475del
ENST00000461574.2:c.410_411del	ENSP00000417241.2:p.Leu137ProfsTer4
ENST00000470026.6:c.410_411del	ENSP00000419274.2:p.Leu137ProfsTer4
ENST00000473961.6:c.410_411del	ENSP00000420201.2:p.Leu137ProfsTer4
ENST00000476777.6:c.410_411del	ENSP00000417554.2:p.Leu137ProfsTer4
ENST00000477152.6:c.332_333del	ENSP00000419988.2:p.Leu111ProfsTer4
ENST00000478531.6:c.410_411del	ENSP00000420412.2:p.Leu137ProfsTer4
ENST00000489037.2:c.332_333del	ENSP00000420781.2:p.Leu111ProfsTer4
ENST00000493919.6:c.269_270del	ENSP00000418819.2:p.Leu90ProfsTer4
ENST00000494123.6:c.410_411del	ENSP00000419103.2:p.Leu137ProfsTer4
ENST00000497488.2:c.-218-9293_-218-9292del	ENSP00000418986.2:n.-218-9293_-218-9292del
ENST00000618469.2:c.410_411del	ENSP00000478114.2:p.Leu137ProfsTer4
ENST00000634433.2:c.410_411del	ENSP00000489431.2:p.Leu137ProfsTer4
ENST00000644379.2:c.410_411del	ENSP00000496570.2:p.Leu137ProfsTer4
ENST00000644555.2:c.269_270del	ENSP00000494614.2:p.Leu90ProfsTer4
ENST00000652672.2:c.269_270del	ENSP00000498906.2:p.Leu90ProfsTer4
ENST00000484087.6:c.410_411del	ENSP00000419481.2:p.Leu137ProfsTer4
ENST00000700182.1:c.332_333del	ENSP00000514849.1:p.Leu111ProfsTer4
ENST00000700183.1:c.*324_*325del	ENSP00000514850.1:n.*324_*325del
ENST00000700184.1:n.653_654del
ENST00000357654.9:c.410_411del MANE Select	ENSP00000350283.3:p.Leu137ProfsTer4
ENST00000471181.7:c.410_411del	ENSP00000418960.2:p.Leu137ProfsTer4
ENST00000642945.1:c.*284_*285del	ENSP00000495897.1:n.*284_*285del
ENST00000652672.1:c.269_270del	ENSP00000498906.1:p.Leu90ProfsTer4
ENST00000352993.7:c.410_411del	ENSP00000312236.5:p.Leu137ProfsTer4
ENST00000354071.7:c.410_411del	ENSP00000326002.7:p.Leu137ProfsTer4
ENST00000357654.7:c.410_411del	ENSP00000350283.3:p.Leu137ProfsTer4
ENST00000461221.5:c.*196_*197del	ENSP00000418548.1:n.*196_*197del
ENST00000461798.5:c.*196_*197del	ENSP00000417988.1:n.*196_*197del
ENST00000468300.5:c.410_411del	ENSP00000417148.1:p.Leu137ProfsTer4
ENST00000470026.5:c.410_411del	ENSP00000419274.1:p.Leu137ProfsTer4
ENST00000471181.6:c.410_411del	ENSP00000418960.2:p.Leu137ProfsTer4
ENST00000473961.5:c.133_134del
ENST00000476777.5:c.410_411del	ENSP00000417554.1:p.Leu137ProfsTer4
ENST00000477152.5:c.332_333del	ENSP00000419988.1:p.Leu111ProfsTer4
ENST00000478531.5:c.410_411del	ENSP00000420412.1:p.Leu137ProfsTer4
ENST00000484087.5:c.158_159del	ENSP00000419481.1:p.Leu53ProfsTer4
ENST00000487825.5:c.158_159del	ENSP00000418212.1:p.Leu53ProfsTer4
ENST00000491747.6:c.410_411del	ENSP00000420705.2:p.Leu137ProfsTer4
ENST00000492859.5:c.*346_*347del	ENSP00000420253.1:n.*346_*347del
ENST00000493795.5:c.269_270del	ENSP00000418775.1:p.Leu90ProfsTer4
ENST00000493919.5:c.269_270del	ENSP00000418819.1:p.Leu90ProfsTer4
ENST00000494123.5:c.410_411del	ENSP00000419103.1:p.Leu137ProfsTer4
ENST00000497488.1:c.-218-9293_-218-9292del	ENSP00000418986.1:n.-218-9293_-218-9292del
ENST00000586385.5:c.4+21029_4+21030del	ENSP00000465818.1:n.4+21029_4+21030del
ENST00000591534.5:c.-44+21118_-44+21119del	ENSP00000467329.1:n.-44+21118_-44+21119del
ENST00000591849.5:c.-99+21118_-99+21119del	ENSP00000465347.1:n.-99+21118_-99+21119del
ENST00000634433.1:c.410_411del	ENSP00000489431.1:p.Leu137ProfsTer4
NM_007294.3:c.410_411del , LRG_292t1:c.410_411del	NP_009225.1:p.Leu137ProfsTer4
NM_007297.3:c.269_270del	NP_009228.2:p.Leu90ProfsTer4
NM_007298.3:c.410_411del	NP_009229.2:p.Leu137ProfsTer4
NM_007299.3:c.410_411del	NP_009230.2:p.Leu137ProfsTer4
NM_007300.3:c.410_411del	NP_009231.2:p.Leu137ProfsTer4
NR_027676.1:n.549_550del
NM_007294.4:c.410_411del MANE Select	NP_009225.1:p.Leu137ProfsTer4
NM_007297.4:c.269_270del	NP_009228.2:p.Leu90ProfsTer4
NM_007299.4:c.410_411del	NP_009230.2:p.Leu137ProfsTer4
NM_007300.4:c.410_411del	NP_009231.2:p.Leu137ProfsTer4
NR_027676.2:n.590_591del