Canonical Allele Identifier: CA2580093977

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1745035
• ClinVar RCV Id: RCV002335737

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067630_43067631dup , CM000679.2:g.43067630_43067631dup	GRCh38
NC_000017.10:g.41219647_41219648dup , CM000679.1:g.41219647_41219648dup	GRCh37
NC_000017.9:g.38473173_38473174dup	NCBI36
NG_005905.2:g.150353_150354dup , LRG_292:g.150353_150354dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5048_5049dup	ENSP00000417241.2:p.Thr1684LeufsTer6
ENST00000470026.6:c.5051_5052dup	ENSP00000419274.2:p.Thr1685LeufsTer6
ENST00000473961.6:c.4925_4926dup	ENSP00000420201.2:p.Thr1643LeufsTer6
ENST00000476777.6:c.5045_5046dup	ENSP00000417554.2:p.Thr1683LeufsTer6
ENST00000477152.6:c.4973_4974dup	ENSP00000419988.2:p.Thr1659LeufsTer6
ENST00000478531.6:c.1739_1740dup	ENSP00000420412.2:p.Thr581LeufsTer6
ENST00000489037.2:c.4973_4974dup	ENSP00000420781.2:p.Thr1659LeufsTer6
ENST00000493919.6:c.1601_1602dup	ENSP00000418819.2:p.Thr535LeufsTer6
ENST00000494123.6:c.5051_5052dup	ENSP00000419103.2:p.Thr1685LeufsTer6
ENST00000497488.2:c.4163_4164dup	ENSP00000418986.2:p.Thr1389LeufsTer6
ENST00000618469.2:c.5051_5052dup	ENSP00000478114.2:p.Thr1685LeufsTer6
ENST00000634433.2:c.4928_4929dup	ENSP00000489431.2:p.Thr1644LeufsTer6
ENST00000644379.2:c.5117_5118dup	ENSP00000496570.2:p.Thr1707LeufsTer6
ENST00000644555.2:c.1601_1602dup	ENSP00000494614.2:p.Thr535LeufsTer6
ENST00000652672.2:c.4910_4911dup	ENSP00000498906.2:p.Thr1638LeufsTer6
ENST00000484087.6:c.1613_1614dup	ENSP00000419481.2:p.Thr539LeufsTer6
ENST00000357654.9:c.5051_5052dup MANE Select	ENSP00000350283.3:p.Thr1685LeufsTer6
ENST00000471181.7:c.5114_5115dup	ENSP00000418960.2:p.Thr1706LeufsTer6
ENST00000644379.1:c.1438_1439dup
ENST00000352993.7:c.1625_1626dup	ENSP00000312236.5:p.Thr543LeufsTer6
ENST00000357654.7:c.5051_5052dup	ENSP00000350283.3:p.Thr1685LeufsTer6
ENST00000461221.5:c.*4834_*4835dup	ENSP00000418548.1:n.*4834_*4835dup
ENST00000468300.5:c.1739_1740dup	ENSP00000417148.1:p.Thr581LeufsTer6
ENST00000471181.6:c.5114_5115dup	ENSP00000418960.2:p.Thr1706LeufsTer6
ENST00000472490.1:n.204_205dup
ENST00000478531.5:c.1739_1740dup	ENSP00000420412.1:p.Thr581LeufsTer6
ENST00000484087.5:c.1364_1365dup	ENSP00000419481.1:p.Thr456LeufsTer6
ENST00000491747.6:c.1739_1740dup	ENSP00000420705.2:p.Thr581LeufsTer6
ENST00000493795.5:c.4910_4911dup	ENSP00000418775.1:p.Thr1638LeufsTer6
ENST00000493919.5:c.1601_1602dup	ENSP00000418819.1:p.Thr535LeufsTer6
ENST00000586385.5:c.5-3680_5-3679dup	ENSP00000465818.1:n.5-3680_5-3679dup
ENST00000591534.5:c.524_525dup	ENSP00000467329.1:p.Thr176LeufsTer6
ENST00000591849.5:c.-98-17441_-98-17440dup	ENSP00000465347.1:n.-98-17441_-98-17440dup
NM_007294.3:c.5051_5052dup , LRG_292t1:c.5051_5052dup	NP_009225.1:p.Thr1685LeufsTer6
NM_007297.3:c.4910_4911dup	NP_009228.2:p.Thr1638LeufsTer6
NM_007298.3:c.1739_1740dup	NP_009229.2:p.Thr581LeufsTer6
NM_007299.3:c.1739_1740dup	NP_009230.2:p.Thr581LeufsTer6
NM_007300.3:c.5114_5115dup	NP_009231.2:p.Thr1706LeufsTer6
NR_027676.1:n.5187_5188dup
NM_007294.4:c.5051_5052dup MANE Select	NP_009225.1:p.Thr1685LeufsTer6
NM_007297.4:c.4910_4911dup	NP_009228.2:p.Thr1638LeufsTer6
NM_007299.4:c.1739_1740dup	NP_009230.2:p.Thr581LeufsTer6
NM_007300.4:c.5114_5115dup	NP_009231.2:p.Thr1706LeufsTer6
NR_027676.2:n.5228_5229dup