Canonical Allele Identifier: CA2260771318

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067617_43067620delinsTAAC , CM000679.2:g.43067617_43067620delinsTAAC	GRCh38
NC_000017.10:g.41219634_41219637delinsTAAC , CM000679.1:g.41219634_41219637delinsTAAC	GRCh37
NC_000017.9:g.38473160_38473163delinsTAAC	NCBI36
NG_005905.2:g.150364_150367delinsGTTA , LRG_292:g.150364_150367delinsGTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5059_5062delinsGTTA	ENSP00000417241.2:p.Val1687=
ENST00000470026.6:c.5062_5065delinsGTTA	ENSP00000419274.2:p.Val1688=
ENST00000473961.6:c.4936_4939delinsGTTA	ENSP00000420201.2:p.Val1646=
ENST00000476777.6:c.5056_5059delinsGTTA	ENSP00000417554.2:p.Val1686=
ENST00000477152.6:c.4984_4987delinsGTTA	ENSP00000419988.2:p.Val1662=
ENST00000478531.6:c.1750_1753delinsGTTA	ENSP00000420412.2:p.Val584=
ENST00000489037.2:c.4984_4987delinsGTTA	ENSP00000420781.2:p.Val1662=
ENST00000493919.6:c.1612_1615delinsGTTA	ENSP00000418819.2:p.Val538=
ENST00000494123.6:c.5062_5065delinsGTTA	ENSP00000419103.2:p.Val1688=
ENST00000497488.2:c.4174_4177delinsGTTA	ENSP00000418986.2:p.Val1392=
ENST00000618469.2:c.5062_5065delinsGTTA	ENSP00000478114.2:p.Val1688=
ENST00000634433.2:c.4939_4942delinsGTTA	ENSP00000489431.2:p.Val1647=
ENST00000644379.2:c.5128_5131delinsGTTA	ENSP00000496570.2:p.Val1710=
ENST00000644555.2:c.1612_1615delinsGTTA	ENSP00000494614.2:p.Val538=
ENST00000652672.2:c.4921_4924delinsGTTA	ENSP00000498906.2:p.Val1641=
ENST00000484087.6:c.1624_1627delinsGTTA	ENSP00000419481.2:p.Val542=
ENST00000357654.9:c.5062_5065delinsGTTA MANE Select	ENSP00000350283.3:p.Val1688=
ENST00000471181.7:c.5125_5128delinsGTTA	ENSP00000418960.2:p.Val1709=
ENST00000644379.1:c.1449_1452delinsGTTA
ENST00000352993.7:c.1636_1639delinsGTTA	ENSP00000312236.5:p.Val546=
ENST00000357654.7:c.5062_5065delinsGTTA	ENSP00000350283.3:p.Val1688=
ENST00000461221.5:c.*4845_*4848delinsGTTA	ENSP00000418548.1:n.*4845_*4848delinsGTTA
ENST00000468300.5:c.1750_1753delinsGTTA	ENSP00000417148.1:p.Val584=
ENST00000471181.6:c.5125_5128delinsGTTA	ENSP00000418960.2:p.Val1709=
ENST00000472490.1:n.215_218delinsGTTA
ENST00000478531.5:c.1750_1753delinsGTTA	ENSP00000420412.1:p.Val584=
ENST00000484087.5:c.1375_1378delinsGTTA	ENSP00000419481.1:p.Val459=
ENST00000491747.6:c.1750_1753delinsGTTA	ENSP00000420705.2:p.Val584=
ENST00000493795.5:c.4921_4924delinsGTTA	ENSP00000418775.1:p.Val1641=
ENST00000493919.5:c.1612_1615delinsGTTA	ENSP00000418819.1:p.Val538=
ENST00000586385.5:c.5-3669_5-3666delinsGTTA	ENSP00000465818.1:n.5-3669_5-3666delinsGTTA
ENST00000591534.5:c.535_538delinsGTTA	ENSP00000467329.1:p.Val179=
ENST00000591849.5:c.-98-17430_-98-17427delinsGTTA	ENSP00000465347.1:n.-98-17430_-98-17427delinsGTTA
NM_007294.3:c.5062_5065delinsGTTA , LRG_292t1:c.5062_5065delinsGTTA	NP_009225.1:p.Val1688=
NM_007297.3:c.4921_4924delinsGTTA	NP_009228.2:p.Val1641=
NM_007298.3:c.1750_1753delinsGTTA	NP_009229.2:p.Val584=
NM_007299.3:c.1750_1753delinsGTTA	NP_009230.2:p.Val584=
NM_007300.3:c.5125_5128delinsGTTA	NP_009231.2:p.Val1709=
NR_027676.1:n.5198_5201delinsGTTA
NM_007294.4:c.5062_5065delinsGTTA MANE Select	NP_009225.1:p.Val1688=
NM_007297.4:c.4921_4924delinsGTTA	NP_009228.2:p.Val1641=
NM_007299.4:c.1750_1753delinsGTTA	NP_009230.2:p.Val584=
NM_007300.4:c.5125_5128delinsGTTA	NP_009231.2:p.Val1709=
NR_027676.2:n.5239_5242delinsGTTA