Canonical Allele Identifier: CA983874990

Gene: BRCA1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064841_43064848del , CM000679.2:g.43064841_43064848del	GRCh38
NC_000017.10:g.41216858_41216865del , CM000679.1:g.41216858_41216865del	GRCh37
NC_000017.9:g.38470384_38470391del	NCBI36
NG_005905.2:g.153149_153156del , LRG_292:g.153149_153156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-884_5072-877del	ENSP00000417241.2:n.5072-884_5072-877del
ENST00000470026.6:c.5075-884_5075-877del	ENSP00000419274.2:n.5075-884_5075-877del
ENST00000473961.6:c.4949-884_4949-877del	ENSP00000420201.2:n.4949-884_4949-877del
ENST00000476777.6:c.5069-884_5069-877del	ENSP00000417554.2:n.5069-884_5069-877del
ENST00000477152.6:c.4997-884_4997-877del	ENSP00000419988.2:n.4997-884_4997-877del
ENST00000478531.6:c.1763-884_1763-877del	ENSP00000420412.2:n.1763-884_1763-877del
ENST00000489037.2:c.4997-884_4997-877del	ENSP00000420781.2:n.4997-884_4997-877del
ENST00000493919.6:c.1625-884_1625-877del	ENSP00000418819.2:n.1625-884_1625-877del
ENST00000494123.6:c.5075-884_5075-877del	ENSP00000419103.2:n.5075-884_5075-877del
ENST00000497488.2:c.4187-884_4187-877del	ENSP00000418986.2:n.4187-884_4187-877del
ENST00000618469.2:c.5075-884_5075-877del	ENSP00000478114.2:n.5075-884_5075-877del
ENST00000634433.2:c.4952-884_4952-877del	ENSP00000489431.2:n.4952-884_4952-877del
ENST00000644379.2:c.5141-884_5141-877del	ENSP00000496570.2:n.5141-884_5141-877del
ENST00000644555.2:c.1625-884_1625-877del	ENSP00000494614.2:n.1625-884_1625-877del
ENST00000652672.2:c.4934-884_4934-877del	ENSP00000498906.2:n.4934-884_4934-877del
ENST00000484087.6:c.1637-884_1637-877del	ENSP00000419481.2:n.1637-884_1637-877del
ENST00000357654.9:c.5075-884_5075-877del MANE Select	ENSP00000350283.3:n.5075-884_5075-877del
ENST00000471181.7:c.5138-884_5138-877del	ENSP00000418960.2:n.5138-884_5138-877del
ENST00000644379.1:c.1462-884_1462-877del
ENST00000352993.7:c.1649-884_1649-877del	ENSP00000312236.5:n.1649-884_1649-877del
ENST00000357654.7:c.5075-884_5075-877del	ENSP00000350283.3:n.5075-884_5075-877del
ENST00000461221.5:c.*4858-884_*4858-877del	ENSP00000418548.1:n.*4858-884_*4858-877del
ENST00000468300.5:c.1763-884_1763-877del	ENSP00000417148.1:n.1763-884_1763-877del
ENST00000471181.6:c.5138-884_5138-877del	ENSP00000418960.2:n.5138-884_5138-877del
ENST00000478531.5:c.1763-884_1763-877del	ENSP00000420412.1:n.1763-884_1763-877del
ENST00000484087.5:c.1388-884_1388-877del	ENSP00000419481.1:n.1388-884_1388-877del
ENST00000491747.6:c.1763-884_1763-877del	ENSP00000420705.2:n.1763-884_1763-877del
ENST00000493795.5:c.4934-884_4934-877del	ENSP00000418775.1:n.4934-884_4934-877del
ENST00000493919.5:c.1625-884_1625-877del	ENSP00000418819.1:n.1625-884_1625-877del
ENST00000586385.5:c.5-884_5-877del	ENSP00000465818.1:n.5-884_5-877del
ENST00000591534.5:c.548-884_548-877del	ENSP00000467329.1:n.548-884_548-877del
ENST00000591849.5:c.-98-14645_-98-14638del	ENSP00000465347.1:n.-98-14645_-98-14638del
NM_007294.3:c.5075-884_5075-877del , LRG_292t1:c.5075-884_5075-877del	NP_009225.1:n.5075-884_5075-877del
NM_007297.3:c.4934-884_4934-877del	NP_009228.2:n.4934-884_4934-877del
NM_007298.3:c.1763-884_1763-877del	NP_009229.2:n.1763-884_1763-877del
NM_007299.3:c.1763-884_1763-877del	NP_009230.2:n.1763-884_1763-877del
NM_007300.3:c.5138-884_5138-877del	NP_009231.2:n.5138-884_5138-877del
NR_027676.1:n.5211-884_5211-877del
NM_007294.4:c.5075-884_5075-877del MANE Select	NP_009225.1:n.5075-884_5075-877del
NM_007297.4:c.4934-884_4934-877del	NP_009228.2:n.4934-884_4934-877del
NM_007299.4:c.1763-884_1763-877del	NP_009230.2:n.1763-884_1763-877del
NM_007300.4:c.5138-884_5138-877del	NP_009231.2:n.5138-884_5138-877del
NR_027676.2:n.5252-884_5252-877del