Canonical Allele Identifier: CA983875108

Gene: BRCA1

Linked Data

• dbSNP Id: rs2051988525
• gnomAD v3: 17-43064849-GA-G
• gnomAD v4: 17-43064849-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064850del , CM000679.2:g.43064850del	GRCh38
NC_000017.10:g.41216867del , CM000679.1:g.41216867del	GRCh37
NC_000017.9:g.38470393del	NCBI36
NG_005905.2:g.153134del , LRG_292:g.153134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-899del	ENSP00000417241.2:n.5072-899del
ENST00000470026.6:c.5075-899del	ENSP00000419274.2:n.5075-899del
ENST00000473961.6:c.4949-899del	ENSP00000420201.2:n.4949-899del
ENST00000476777.6:c.5069-899del	ENSP00000417554.2:n.5069-899del
ENST00000477152.6:c.4997-899del	ENSP00000419988.2:n.4997-899del
ENST00000478531.6:c.1763-899del	ENSP00000420412.2:n.1763-899del
ENST00000489037.2:c.4997-899del	ENSP00000420781.2:n.4997-899del
ENST00000493919.6:c.1625-899del	ENSP00000418819.2:n.1625-899del
ENST00000494123.6:c.5075-899del	ENSP00000419103.2:n.5075-899del
ENST00000497488.2:c.4187-899del	ENSP00000418986.2:n.4187-899del
ENST00000618469.2:c.5075-899del	ENSP00000478114.2:n.5075-899del
ENST00000634433.2:c.4952-899del	ENSP00000489431.2:n.4952-899del
ENST00000644379.2:c.5141-899del	ENSP00000496570.2:n.5141-899del
ENST00000644555.2:c.1625-899del	ENSP00000494614.2:n.1625-899del
ENST00000652672.2:c.4934-899del	ENSP00000498906.2:n.4934-899del
ENST00000484087.6:c.1637-899del	ENSP00000419481.2:n.1637-899del
ENST00000357654.9:c.5075-899del MANE Select	ENSP00000350283.3:n.5075-899del
ENST00000471181.7:c.5138-899del	ENSP00000418960.2:n.5138-899del
ENST00000644379.1:c.1462-899del
ENST00000352993.7:c.1649-899del	ENSP00000312236.5:n.1649-899del
ENST00000357654.7:c.5075-899del	ENSP00000350283.3:n.5075-899del
ENST00000461221.5:c.*4858-899del	ENSP00000418548.1:n.*4858-899del
ENST00000468300.5:c.1763-899del	ENSP00000417148.1:n.1763-899del
ENST00000471181.6:c.5138-899del	ENSP00000418960.2:n.5138-899del
ENST00000478531.5:c.1763-899del	ENSP00000420412.1:n.1763-899del
ENST00000484087.5:c.1388-899del	ENSP00000419481.1:n.1388-899del
ENST00000491747.6:c.1763-899del	ENSP00000420705.2:n.1763-899del
ENST00000493795.5:c.4934-899del	ENSP00000418775.1:n.4934-899del
ENST00000493919.5:c.1625-899del	ENSP00000418819.1:n.1625-899del
ENST00000586385.5:c.5-899del	ENSP00000465818.1:n.5-899del
ENST00000591534.5:c.548-899del	ENSP00000467329.1:n.548-899del
ENST00000591849.5:c.-98-14660del	ENSP00000465347.1:n.-98-14660del
NM_007294.3:c.5075-899del , LRG_292t1:c.5075-899del	NP_009225.1:n.5075-899del
NM_007297.3:c.4934-899del	NP_009228.2:n.4934-899del
NM_007298.3:c.1763-899del	NP_009229.2:n.1763-899del
NM_007299.3:c.1763-899del	NP_009230.2:n.1763-899del
NM_007300.3:c.5138-899del	NP_009231.2:n.5138-899del
NR_027676.1:n.5211-899del
NM_007294.4:c.5075-899del MANE Select	NP_009225.1:n.5075-899del
NM_007297.4:c.4934-899del	NP_009228.2:n.4934-899del
NM_007299.4:c.1763-899del	NP_009230.2:n.1763-899del
NM_007300.4:c.5138-899del	NP_009231.2:n.5138-899del
NR_027676.2:n.5252-899del