Canonical Allele Identifier: CA983875146

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43064853-TGCAGTC-T
• gnomAD v4: 17-43064853-TGCAGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064854_43064859del , CM000679.2:g.43064854_43064859del	GRCh38
NC_000017.10:g.41216871_41216876del , CM000679.1:g.41216871_41216876del	GRCh37
NC_000017.9:g.38470397_38470402del	NCBI36
NG_005905.2:g.153125_153130del , LRG_292:g.153125_153130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-908_5072-903del	ENSP00000417241.2:n.5072-908_5072-903del
ENST00000470026.6:c.5075-908_5075-903del	ENSP00000419274.2:n.5075-908_5075-903del
ENST00000473961.6:c.4949-908_4949-903del	ENSP00000420201.2:n.4949-908_4949-903del
ENST00000476777.6:c.5069-908_5069-903del	ENSP00000417554.2:n.5069-908_5069-903del
ENST00000477152.6:c.4997-908_4997-903del	ENSP00000419988.2:n.4997-908_4997-903del
ENST00000478531.6:c.1763-908_1763-903del	ENSP00000420412.2:n.1763-908_1763-903del
ENST00000489037.2:c.4997-908_4997-903del	ENSP00000420781.2:n.4997-908_4997-903del
ENST00000493919.6:c.1625-908_1625-903del	ENSP00000418819.2:n.1625-908_1625-903del
ENST00000494123.6:c.5075-908_5075-903del	ENSP00000419103.2:n.5075-908_5075-903del
ENST00000497488.2:c.4187-908_4187-903del	ENSP00000418986.2:n.4187-908_4187-903del
ENST00000618469.2:c.5075-908_5075-903del	ENSP00000478114.2:n.5075-908_5075-903del
ENST00000634433.2:c.4952-908_4952-903del	ENSP00000489431.2:n.4952-908_4952-903del
ENST00000644379.2:c.5141-908_5141-903del	ENSP00000496570.2:n.5141-908_5141-903del
ENST00000644555.2:c.1625-908_1625-903del	ENSP00000494614.2:n.1625-908_1625-903del
ENST00000652672.2:c.4934-908_4934-903del	ENSP00000498906.2:n.4934-908_4934-903del
ENST00000484087.6:c.1637-908_1637-903del	ENSP00000419481.2:n.1637-908_1637-903del
ENST00000357654.9:c.5075-908_5075-903del MANE Select	ENSP00000350283.3:n.5075-908_5075-903del
ENST00000471181.7:c.5138-908_5138-903del	ENSP00000418960.2:n.5138-908_5138-903del
ENST00000644379.1:c.1462-908_1462-903del
ENST00000352993.7:c.1649-908_1649-903del	ENSP00000312236.5:n.1649-908_1649-903del
ENST00000357654.7:c.5075-908_5075-903del	ENSP00000350283.3:n.5075-908_5075-903del
ENST00000461221.5:c.*4858-908_*4858-903del	ENSP00000418548.1:n.*4858-908_*4858-903del
ENST00000468300.5:c.1763-908_1763-903del	ENSP00000417148.1:n.1763-908_1763-903del
ENST00000471181.6:c.5138-908_5138-903del	ENSP00000418960.2:n.5138-908_5138-903del
ENST00000478531.5:c.1763-908_1763-903del	ENSP00000420412.1:n.1763-908_1763-903del
ENST00000484087.5:c.1388-908_1388-903del	ENSP00000419481.1:n.1388-908_1388-903del
ENST00000491747.6:c.1763-908_1763-903del	ENSP00000420705.2:n.1763-908_1763-903del
ENST00000493795.5:c.4934-908_4934-903del	ENSP00000418775.1:n.4934-908_4934-903del
ENST00000493919.5:c.1625-908_1625-903del	ENSP00000418819.1:n.1625-908_1625-903del
ENST00000586385.5:c.5-908_5-903del	ENSP00000465818.1:n.5-908_5-903del
ENST00000591534.5:c.548-908_548-903del	ENSP00000467329.1:n.548-908_548-903del
ENST00000591849.5:c.-98-14669_-98-14664del	ENSP00000465347.1:n.-98-14669_-98-14664del
NM_007294.3:c.5075-908_5075-903del , LRG_292t1:c.5075-908_5075-903del	NP_009225.1:n.5075-908_5075-903del
NM_007297.3:c.4934-908_4934-903del	NP_009228.2:n.4934-908_4934-903del
NM_007298.3:c.1763-908_1763-903del	NP_009229.2:n.1763-908_1763-903del
NM_007299.3:c.1763-908_1763-903del	NP_009230.2:n.1763-908_1763-903del
NM_007300.3:c.5138-908_5138-903del	NP_009231.2:n.5138-908_5138-903del
NR_027676.1:n.5211-908_5211-903del
NM_007294.4:c.5075-908_5075-903del MANE Select	NP_009225.1:n.5075-908_5075-903del
NM_007297.4:c.4934-908_4934-903del	NP_009228.2:n.4934-908_4934-903del
NM_007299.4:c.1763-908_1763-903del	NP_009230.2:n.1763-908_1763-903del
NM_007300.4:c.5138-908_5138-903del	NP_009231.2:n.5138-908_5138-903del
NR_027676.2:n.5252-908_5252-903del