Canonical Allele Identifier: CA915950096

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825405
• ClinVar RCV Id: RCV001023480
• dbSNP Id: rs1597825743

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067629_43067630dup , CM000679.2:g.43067629_43067630dup	GRCh38
NC_000017.10:g.41219646_41219647dup , CM000679.1:g.41219646_41219647dup	GRCh37
NC_000017.9:g.38473172_38473173dup	NCBI36
NG_005905.2:g.150354_150355dup , LRG_292:g.150354_150355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5049_5050dup	ENSP00000417241.2:p.Thr1684IlefsTer6
ENST00000470026.6:c.5052_5053dup	ENSP00000419274.2:p.Thr1685IlefsTer6
ENST00000473961.6:c.4926_4927dup	ENSP00000420201.2:p.Thr1643IlefsTer6
ENST00000476777.6:c.5046_5047dup	ENSP00000417554.2:p.Thr1683IlefsTer6
ENST00000477152.6:c.4974_4975dup	ENSP00000419988.2:p.Thr1659IlefsTer6
ENST00000478531.6:c.1740_1741dup	ENSP00000420412.2:p.Thr581IlefsTer6
ENST00000489037.2:c.4974_4975dup	ENSP00000420781.2:p.Thr1659IlefsTer6
ENST00000493919.6:c.1602_1603dup	ENSP00000418819.2:p.Thr535IlefsTer6
ENST00000494123.6:c.5052_5053dup	ENSP00000419103.2:p.Thr1685IlefsTer6
ENST00000497488.2:c.4164_4165dup	ENSP00000418986.2:p.Thr1389IlefsTer6
ENST00000618469.2:c.5052_5053dup	ENSP00000478114.2:p.Thr1685IlefsTer6
ENST00000634433.2:c.4929_4930dup	ENSP00000489431.2:p.Thr1644IlefsTer6
ENST00000644379.2:c.5118_5119dup	ENSP00000496570.2:p.Thr1707IlefsTer6
ENST00000644555.2:c.1602_1603dup	ENSP00000494614.2:p.Thr535IlefsTer6
ENST00000652672.2:c.4911_4912dup	ENSP00000498906.2:p.Thr1638IlefsTer6
ENST00000484087.6:c.1614_1615dup	ENSP00000419481.2:p.Thr539IlefsTer6
ENST00000357654.9:c.5052_5053dup MANE Select	ENSP00000350283.3:p.Thr1685IlefsTer6
ENST00000471181.7:c.5115_5116dup	ENSP00000418960.2:p.Thr1706IlefsTer6
ENST00000644379.1:c.1439_1440dup
ENST00000352993.7:c.1626_1627dup	ENSP00000312236.5:p.Thr543IlefsTer6
ENST00000357654.7:c.5052_5053dup	ENSP00000350283.3:p.Thr1685IlefsTer6
ENST00000461221.5:c.*4835_*4836dup	ENSP00000418548.1:n.*4835_*4836dup
ENST00000468300.5:c.1740_1741dup	ENSP00000417148.1:p.Thr581IlefsTer6
ENST00000471181.6:c.5115_5116dup	ENSP00000418960.2:p.Thr1706IlefsTer6
ENST00000472490.1:n.205_206dup
ENST00000478531.5:c.1740_1741dup	ENSP00000420412.1:p.Thr581IlefsTer6
ENST00000484087.5:c.1365_1366dup	ENSP00000419481.1:p.Thr456IlefsTer6
ENST00000491747.6:c.1740_1741dup	ENSP00000420705.2:p.Thr581IlefsTer6
ENST00000493795.5:c.4911_4912dup	ENSP00000418775.1:p.Thr1638IlefsTer6
ENST00000493919.5:c.1602_1603dup	ENSP00000418819.1:p.Thr535IlefsTer6
ENST00000586385.5:c.5-3679_5-3678dup	ENSP00000465818.1:n.5-3679_5-3678dup
ENST00000591534.5:c.525_526dup	ENSP00000467329.1:p.Thr176IlefsTer6
ENST00000591849.5:c.-98-17440_-98-17439dup	ENSP00000465347.1:n.-98-17440_-98-17439dup
NM_007294.3:c.5052_5053dup , LRG_292t1:c.5052_5053dup	NP_009225.1:p.Thr1685IlefsTer6
NM_007297.3:c.4911_4912dup	NP_009228.2:p.Thr1638IlefsTer6
NM_007298.3:c.1740_1741dup	NP_009229.2:p.Thr581IlefsTer6
NM_007299.3:c.1740_1741dup	NP_009230.2:p.Thr581IlefsTer6
NM_007300.3:c.5115_5116dup	NP_009231.2:p.Thr1706IlefsTer6
NR_027676.1:n.5188_5189dup
NM_007294.4:c.5052_5053dup MANE Select	NP_009225.1:p.Thr1685IlefsTer6
NM_007297.4:c.4911_4912dup	NP_009228.2:p.Thr1638IlefsTer6
NM_007299.4:c.1740_1741dup	NP_009230.2:p.Thr581IlefsTer6
NM_007300.4:c.5115_5116dup	NP_009231.2:p.Thr1706IlefsTer6
NR_027676.2:n.5229_5230dup