Canonical Allele Identifier: CA983875042

Gene: BRCA1

Linked Data

• dbSNP Id: rs60879064
• gnomAD v3: 17-43064827-A-ATTTTTTTTTTTTT
• gnomAD v4: 17-43064827-A-ATTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064836_43064848dup , CM000679.2:g.43064836_43064848dup	GRCh38
NC_000017.10:g.41216853_41216865dup , CM000679.1:g.41216853_41216865dup	GRCh37
NC_000017.9:g.38470379_38470391dup	NCBI36
NG_005905.2:g.153144_153156dup , LRG_292:g.153144_153156dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5072-889_5072-877dup	ENSP00000417241.2:n.5072-889_5072-877dup
ENST00000470026.6:c.5075-889_5075-877dup	ENSP00000419274.2:n.5075-889_5075-877dup
ENST00000473961.6:c.4949-889_4949-877dup	ENSP00000420201.2:n.4949-889_4949-877dup
ENST00000476777.6:c.5069-889_5069-877dup	ENSP00000417554.2:n.5069-889_5069-877dup
ENST00000477152.6:c.4997-889_4997-877dup	ENSP00000419988.2:n.4997-889_4997-877dup
ENST00000478531.6:c.1763-889_1763-877dup	ENSP00000420412.2:n.1763-889_1763-877dup
ENST00000489037.2:c.4997-889_4997-877dup	ENSP00000420781.2:n.4997-889_4997-877dup
ENST00000493919.6:c.1625-889_1625-877dup	ENSP00000418819.2:n.1625-889_1625-877dup
ENST00000494123.6:c.5075-889_5075-877dup	ENSP00000419103.2:n.5075-889_5075-877dup
ENST00000497488.2:c.4187-889_4187-877dup	ENSP00000418986.2:n.4187-889_4187-877dup
ENST00000618469.2:c.5075-889_5075-877dup	ENSP00000478114.2:n.5075-889_5075-877dup
ENST00000634433.2:c.4952-889_4952-877dup	ENSP00000489431.2:n.4952-889_4952-877dup
ENST00000644379.2:c.5141-889_5141-877dup	ENSP00000496570.2:n.5141-889_5141-877dup
ENST00000644555.2:c.1625-889_1625-877dup	ENSP00000494614.2:n.1625-889_1625-877dup
ENST00000652672.2:c.4934-889_4934-877dup	ENSP00000498906.2:n.4934-889_4934-877dup
ENST00000484087.6:c.1637-889_1637-877dup	ENSP00000419481.2:n.1637-889_1637-877dup
ENST00000357654.9:c.5075-889_5075-877dup MANE Select	ENSP00000350283.3:n.5075-889_5075-877dup
ENST00000471181.7:c.5138-889_5138-877dup	ENSP00000418960.2:n.5138-889_5138-877dup
ENST00000644379.1:c.1462-889_1462-877dup
ENST00000352993.7:c.1649-889_1649-877dup	ENSP00000312236.5:n.1649-889_1649-877dup
ENST00000357654.7:c.5075-889_5075-877dup	ENSP00000350283.3:n.5075-889_5075-877dup
ENST00000461221.5:c.*4858-889_*4858-877dup	ENSP00000418548.1:n.*4858-889_*4858-877du...
ENST00000468300.5:c.1763-889_1763-877dup	ENSP00000417148.1:n.1763-889_1763-877dup
ENST00000471181.6:c.5138-889_5138-877dup	ENSP00000418960.2:n.5138-889_5138-877dup
ENST00000478531.5:c.1763-889_1763-877dup	ENSP00000420412.1:n.1763-889_1763-877dup
ENST00000484087.5:c.1388-889_1388-877dup	ENSP00000419481.1:n.1388-889_1388-877dup
ENST00000491747.6:c.1763-889_1763-877dup	ENSP00000420705.2:n.1763-889_1763-877dup
ENST00000493795.5:c.4934-889_4934-877dup	ENSP00000418775.1:n.4934-889_4934-877dup
ENST00000493919.5:c.1625-889_1625-877dup	ENSP00000418819.1:n.1625-889_1625-877dup
ENST00000586385.5:c.5-889_5-877dup	ENSP00000465818.1:n.5-889_5-877dup
ENST00000591534.5:c.548-889_548-877dup	ENSP00000467329.1:n.548-889_548-877dup
ENST00000591849.5:c.-98-14650_-98-14638dup	ENSP00000465347.1:n.-98-14650_-98-14638du...
NM_007294.3:c.5075-889_5075-877dup , LRG_292t1:c.5075-889_5075-877dup	NP_009225.1:n.5075-889_5075-877dup
NM_007297.3:c.4934-889_4934-877dup	NP_009228.2:n.4934-889_4934-877dup
NM_007298.3:c.1763-889_1763-877dup	NP_009229.2:n.1763-889_1763-877dup
NM_007299.3:c.1763-889_1763-877dup	NP_009230.2:n.1763-889_1763-877dup
NM_007300.3:c.5138-889_5138-877dup	NP_009231.2:n.5138-889_5138-877dup
NR_027676.1:n.5211-889_5211-877dup
NM_007294.4:c.5075-889_5075-877dup MANE Select	NP_009225.1:n.5075-889_5075-877dup
NM_007297.4:c.4934-889_4934-877dup	NP_009228.2:n.4934-889_4934-877dup
NM_007299.4:c.1763-889_1763-877dup	NP_009230.2:n.1763-889_1763-877dup
NM_007300.4:c.5138-889_5138-877dup	NP_009231.2:n.5138-889_5138-877dup
NR_027676.2:n.5252-889_5252-877dup