Canonical Allele Identifier: CA2260771361

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067648_43067652delinsATTAG , CM000679.2:g.43067648_43067652delinsATTAG	GRCh38
NC_000017.10:g.41219665_41219669delinsATTAG , CM000679.1:g.41219665_41219669delinsATTAG	GRCh37
NC_000017.9:g.38473191_38473195delinsATTAG	NCBI36
NG_005905.2:g.150332_150336delinsCTAAT , LRG_292:g.150332_150336delinsCTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5027_5031delinsCTAAT	ENSP00000417241.2:p.Thr1676=
ENST00000470026.6:c.5030_5034delinsCTAAT	ENSP00000419274.2:p.Thr1677=
ENST00000473961.6:c.4904_4908delinsCTAAT	ENSP00000420201.2:p.Thr1635=
ENST00000476777.6:c.5024_5028delinsCTAAT	ENSP00000417554.2:p.Thr1675=
ENST00000477152.6:c.4952_4956delinsCTAAT	ENSP00000419988.2:p.Thr1651=
ENST00000478531.6:c.1718_1722delinsCTAAT	ENSP00000420412.2:p.Thr573=
ENST00000489037.2:c.4952_4956delinsCTAAT	ENSP00000420781.2:p.Thr1651=
ENST00000493919.6:c.1580_1584delinsCTAAT	ENSP00000418819.2:p.Thr527=
ENST00000494123.6:c.5030_5034delinsCTAAT	ENSP00000419103.2:p.Thr1677=
ENST00000497488.2:c.4142_4146delinsCTAAT	ENSP00000418986.2:p.Thr1381=
ENST00000618469.2:c.5030_5034delinsCTAAT	ENSP00000478114.2:p.Thr1677=
ENST00000634433.2:c.4907_4911delinsCTAAT	ENSP00000489431.2:p.Thr1636=
ENST00000644379.2:c.5096_5100delinsCTAAT	ENSP00000496570.2:p.Thr1699=
ENST00000644555.2:c.1580_1584delinsCTAAT	ENSP00000494614.2:p.Thr527=
ENST00000652672.2:c.4889_4893delinsCTAAT	ENSP00000498906.2:p.Thr1630=
ENST00000484087.6:c.1592_1596delinsCTAAT	ENSP00000419481.2:p.Thr531=
ENST00000357654.9:c.5030_5034delinsCTAAT MANE Select	ENSP00000350283.3:p.Thr1677=
ENST00000471181.7:c.5093_5097delinsCTAAT	ENSP00000418960.2:p.Thr1698=
ENST00000644379.1:c.1417_1421delinsCTAAT
ENST00000352993.7:c.1604_1608delinsCTAAT	ENSP00000312236.5:p.Thr535=
ENST00000357654.7:c.5030_5034delinsCTAAT	ENSP00000350283.3:p.Thr1677=
ENST00000461221.5:c.*4813_*4817delinsCTAAT	ENSP00000418548.1:n.*4813_*4817delinsCTAAT
ENST00000468300.5:c.1718_1722delinsCTAAT	ENSP00000417148.1:p.Thr573=
ENST00000471181.6:c.5093_5097delinsCTAAT	ENSP00000418960.2:p.Thr1698=
ENST00000472490.1:n.183_187delinsCTAAT
ENST00000478531.5:c.1718_1722delinsCTAAT	ENSP00000420412.1:p.Thr573=
ENST00000484087.5:c.1343_1347delinsCTAAT	ENSP00000419481.1:p.Thr448=
ENST00000491747.6:c.1718_1722delinsCTAAT	ENSP00000420705.2:p.Thr573=
ENST00000493795.5:c.4889_4893delinsCTAAT	ENSP00000418775.1:p.Thr1630=
ENST00000493919.5:c.1580_1584delinsCTAAT	ENSP00000418819.1:p.Thr527=
ENST00000586385.5:c.5-3701_5-3697delinsCTAAT	ENSP00000465818.1:n.5-3701_5-3697delinsCTAAT
ENST00000591534.5:c.503_507delinsCTAAT	ENSP00000467329.1:p.Thr168=
ENST00000591849.5:c.-98-17462_-98-17458delinsCTAAT	ENSP00000465347.1:n.-98-17462_-98-17458delinsCTAAT
NM_007294.3:c.5030_5034delinsCTAAT , LRG_292t1:c.5030_5034delinsCTAAT	NP_009225.1:p.Thr1677=
NM_007297.3:c.4889_4893delinsCTAAT	NP_009228.2:p.Thr1630=
NM_007298.3:c.1718_1722delinsCTAAT	NP_009229.2:p.Thr573=
NM_007299.3:c.1718_1722delinsCTAAT	NP_009230.2:p.Thr573=
NM_007300.3:c.5093_5097delinsCTAAT	NP_009231.2:p.Thr1698=
NR_027676.1:n.5166_5170delinsCTAAT
NM_007294.4:c.5030_5034delinsCTAAT MANE Select	NP_009225.1:p.Thr1677=
NM_007297.4:c.4889_4893delinsCTAAT	NP_009228.2:p.Thr1630=
NM_007299.4:c.1718_1722delinsCTAAT	NP_009230.2:p.Thr573=
NM_007300.4:c.5093_5097delinsCTAAT	NP_009231.2:p.Thr1698=
NR_027676.2:n.5207_5211delinsCTAAT