Canonical Allele Identifier: CA915950059

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825530
• ClinVar RCV Id: RCV001023698
• dbSNP Id: rs1597811041

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057132_43057134del , CM000679.2:g.43057132_43057134del	GRCh38
NC_000017.10:g.41209149_41209151del , CM000679.1:g.41209149_41209151del	GRCh37
NC_000017.9:g.38462675_38462677del	NCBI36
NG_005905.2:g.160852_160854del , LRG_292:g.160852_160854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5194_5196del	ENSP00000417241.2:p.Asp1732del
ENST00000470026.6:c.5197_5199del	ENSP00000419274.2:p.Asp1733del
ENST00000473961.6:c.5071_5073del	ENSP00000420201.2:p.Asp1691del
ENST00000476777.6:c.5191_5193del	ENSP00000417554.2:p.Asp1731del
ENST00000477152.6:c.5119_5121del	ENSP00000419988.2:p.Asp1707del
ENST00000478531.6:c.1885_1887del	ENSP00000420412.2:p.Asp629del
ENST00000489037.2:c.5119_5121del	ENSP00000420781.2:p.Asp1707del
ENST00000493919.6:c.1747_1749del	ENSP00000418819.2:p.Asp583del
ENST00000494123.6:c.5197_5199del	ENSP00000419103.2:p.Asp1733del
ENST00000497488.2:c.4309_4311del	ENSP00000418986.2:p.Asp1437del
ENST00000618469.2:c.5197_5199del	ENSP00000478114.2:p.Asp1733del
ENST00000634433.2:c.5074_5076del	ENSP00000489431.2:p.Asp1692del
ENST00000644379.2:c.5263_5265del	ENSP00000496570.2:p.Asp1755del
ENST00000644555.2:c.1747_1749del	ENSP00000494614.2:p.Asp583del
ENST00000652672.2:c.5056_5058del	ENSP00000498906.2:p.Asp1686del
ENST00000484087.6:c.1759_1761del	ENSP00000419481.2:p.Asp587del
ENST00000357654.9:c.5197_5199del MANE Select	ENSP00000350283.3:p.Asp1733del
ENST00000471181.7:c.5260_5262del	ENSP00000418960.2:p.Asp1754del
ENST00000644379.1:c.1584_1586del
ENST00000352993.7:c.1771_1773del	ENSP00000312236.5:p.Asp591del
ENST00000357654.7:c.5197_5199del	ENSP00000350283.3:p.Asp1733del
ENST00000461221.5:c.*4980_*4982del	ENSP00000418548.1:n.*4980_*4982del
ENST00000468300.5:c.1885_1887del	ENSP00000417148.1:p.Asp629del
ENST00000471181.6:c.5260_5262del	ENSP00000418960.2:p.Asp1754del
ENST00000491747.6:c.1885_1887del	ENSP00000420705.2:p.Asp629del
ENST00000493795.5:c.5056_5058del	ENSP00000418775.1:p.Asp1686del
ENST00000586385.5:c.127_129del	ENSP00000465818.1:p.Asp43del
ENST00000591534.5:c.670_672del	ENSP00000467329.1:p.Asp224del
ENST00000591849.5:c.-98-6942_-98-6940del	ENSP00000465347.1:n.-98-6942_-98-6940del
NM_007294.3:c.5197_5199del , LRG_292t1:c.5197_5199del	NP_009225.1:p.Asp1733del
NM_007297.3:c.5056_5058del	NP_009228.2:p.Asp1686del
NM_007298.3:c.1885_1887del	NP_009229.2:p.Asp629del
NM_007299.3:c.1885_1887del	NP_009230.2:p.Asp629del
NM_007300.3:c.5260_5262del	NP_009231.2:p.Asp1754del
NR_027676.1:n.5333_5335del
NM_007294.4:c.5197_5199del MANE Select	NP_009225.1:p.Asp1733del
NM_007297.4:c.5056_5058del	NP_009228.2:p.Asp1686del
NM_007299.4:c.1885_1887del	NP_009230.2:p.Asp629del
NM_007300.4:c.5260_5262del	NP_009231.2:p.Asp1754del
NR_027676.2:n.5374_5376del