Canonical Allele Identifier: CA2825002471

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3226153
• ClinVar RCV Id: RCV004519388

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082438_43082439delinsAAATC , CM000679.2:g.43082438_43082439delinsAAATC	GRCh38
NC_000017.10:g.41234455_41234456delinsAAATC , CM000679.1:g.41234455_41234456delinsAAATC	GRCh37
NC_000017.9:g.38487981_38487982delinsAAATC	NCBI36
NG_005905.2:g.135545_135546delinsGATTT , LRG_292:g.135545_135546delinsGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4322_4323delinsGATTT	ENSP00000417241.2:p.Asp1441delinsGlyPhe
ENST00000470026.6:c.4322_4323delinsGATTT	ENSP00000419274.2:p.Asp1441delinsGlyPhe
ENST00000473961.6:c.4196_4197delinsGATTT	ENSP00000420201.2:p.Asp1399delinsGlyPhe
ENST00000476777.6:c.4316_4317delinsGATTT	ENSP00000417554.2:p.Asp1439delinsGlyPhe
ENST00000477152.6:c.4244_4245delinsGATTT	ENSP00000419988.2:p.Asp1415delinsGlyPhe
ENST00000478531.6:c.1010_1011delinsGATTT	ENSP00000420412.2:p.Asp337delinsGlyPhe
ENST00000489037.2:c.4244_4245delinsGATTT	ENSP00000420781.2:p.Asp1415delinsGlyPhe
ENST00000493919.6:c.872_873delinsGATTT	ENSP00000418819.2:p.Asp291delinsGlyPhe
ENST00000494123.6:c.4322_4323delinsGATTT	ENSP00000419103.2:p.Asp1441delinsGlyPhe
ENST00000497488.2:c.3434_3435delinsGATTT	ENSP00000418986.2:p.Asp1145delinsGlyPhe
ENST00000618469.2:c.4322_4323delinsGATTT	ENSP00000478114.2:p.Asp1441delinsGlyPhe
ENST00000634433.2:c.4199_4200delinsGATTT	ENSP00000489431.2:p.Asp1400delinsGlyPhe
ENST00000644379.2:c.4322_4323delinsGATTT	ENSP00000496570.2:p.Asp1441delinsGlyPhe
ENST00000644555.2:c.872_873delinsGATTT	ENSP00000494614.2:p.Asp291delinsGlyPhe
ENST00000652672.2:c.4181_4182delinsGATTT	ENSP00000498906.2:p.Asp1394delinsGlyPhe
ENST00000484087.6:c.887_888delinsGATTT	ENSP00000419481.2:p.Asp296delinsGlyPhe
ENST00000700182.1:c.932_933delinsGATTT	ENSP00000514849.1:p.Asp311delinsGlyPhe
ENST00000357654.9:c.4322_4323delinsGATTT MANE Select	ENSP00000350283.3:p.Asp1441delinsGlyPhe
ENST00000471181.7:c.4322_4323delinsGATTT	ENSP00000418960.2:p.Asp1441delinsGlyPhe
ENST00000644379.1:c.643_644delinsGATTT
ENST00000352993.7:c.896_897delinsGATTT	ENSP00000312236.5:p.Asp299delinsGlyPhe
ENST00000357654.7:c.4322_4323delinsGATTT	ENSP00000350283.3:p.Asp1441delinsGlyPhe
ENST00000461221.5:c.*4105_*4106delinsGATTT	ENSP00000418548.1:n.*4105_*4106delinsGATTT
ENST00000461574.1:c.616_617delinsGATTT
ENST00000468300.5:c.1013_1014delinsGATTT	ENSP00000417148.1:p.Asp338delinsGlyPhe
ENST00000471181.6:c.4322_4323delinsGATTT	ENSP00000418960.2:p.Asp1441delinsGlyPhe
ENST00000478531.5:c.1010_1011delinsGATTT	ENSP00000420412.1:p.Asp337delinsGlyPhe
ENST00000484087.5:c.635_636delinsGATTT	ENSP00000419481.1:p.Asp212delinsGlyPhe
ENST00000487825.5:c.638_639delinsGATTT	ENSP00000418212.1:p.Asp213delinsGlyPhe
ENST00000491747.6:c.1013_1014delinsGATTT	ENSP00000420705.2:p.Asp338delinsGlyPhe
ENST00000493795.5:c.4181_4182delinsGATTT	ENSP00000418775.1:p.Asp1394delinsGlyPhe
ENST00000493919.5:c.872_873delinsGATTT	ENSP00000418819.1:p.Asp291delinsGlyPhe
ENST00000586385.5:c.5-18488_5-18487delinsGATTT	ENSP00000465818.1:n.5-18488_5-18487delinsGATTT
ENST00000591534.5:c.-43-7918_-43-7917delinsGATTT	ENSP00000467329.1:n.-43-7918_-43-7917delinsGATTT
ENST00000591849.5:c.-98-32249_-98-32248delinsGATTT	ENSP00000465347.1:n.-98-32249_-98-32248delinsGATTT
ENST00000621897.1:n.216_217delinsGATTT
NM_007294.3:c.4322_4323delinsGATTT , LRG_292t1:c.4322_4323delinsGATTT	NP_009225.1:p.Asp1441delinsGlyPhe
NM_007297.3:c.4181_4182delinsGATTT	NP_009228.2:p.Asp1394delinsGlyPhe
NM_007298.3:c.1013_1014delinsGATTT	NP_009229.2:p.Asp338delinsGlyPhe
NM_007299.3:c.1013_1014delinsGATTT	NP_009230.2:p.Asp338delinsGlyPhe
NM_007300.3:c.4322_4323delinsGATTT	NP_009231.2:p.Asp1441delinsGlyPhe
NR_027676.1:n.4458_4459delinsGATTT
NM_007294.4:c.4322_4323delinsGATTT MANE Select	NP_009225.1:p.Asp1441delinsGlyPhe
NM_007297.4:c.4181_4182delinsGATTT	NP_009228.2:p.Asp1394delinsGlyPhe
NM_007299.4:c.1013_1014delinsGATTT	NP_009230.2:p.Asp338delinsGlyPhe
NM_007300.4:c.4322_4323delinsGATTT	NP_009231.2:p.Asp1441delinsGlyPhe
NR_027676.2:n.4499_4500delinsGATTT