Canonical Allele Identifier: CA983875941

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43066770-AGGAG-A
• gnomAD v4: 17-43066770-AGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43066771_43066774del , CM000679.2:g.43066771_43066774del	GRCh38
NC_000017.10:g.41218788_41218791del , CM000679.1:g.41218788_41218791del	GRCh37
NC_000017.9:g.38472314_38472317del	NCBI36
NG_005905.2:g.151210_151213del , LRG_292:g.151210_151213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+834_5071+837del	ENSP00000417241.2:n.5071+834_5071+837del
ENST00000470026.6:c.5074+834_5074+837del	ENSP00000419274.2:n.5074+834_5074+837del
ENST00000473961.6:c.4948+834_4948+837del	ENSP00000420201.2:n.4948+834_4948+837del
ENST00000476777.6:c.5068+834_5068+837del	ENSP00000417554.2:n.5068+834_5068+837del
ENST00000477152.6:c.4996+834_4996+837del	ENSP00000419988.2:n.4996+834_4996+837del
ENST00000478531.6:c.1762+834_1762+837del	ENSP00000420412.2:n.1762+834_1762+837del
ENST00000489037.2:c.4996+834_4996+837del	ENSP00000420781.2:n.4996+834_4996+837del
ENST00000493919.6:c.1624+834_1624+837del	ENSP00000418819.2:n.1624+834_1624+837del
ENST00000494123.6:c.5074+834_5074+837del	ENSP00000419103.2:n.5074+834_5074+837del
ENST00000497488.2:c.4186+834_4186+837del	ENSP00000418986.2:n.4186+834_4186+837del
ENST00000618469.2:c.5074+834_5074+837del	ENSP00000478114.2:n.5074+834_5074+837del
ENST00000634433.2:c.4951+834_4951+837del	ENSP00000489431.2:n.4951+834_4951+837del
ENST00000644379.2:c.5140+834_5140+837del	ENSP00000496570.2:n.5140+834_5140+837del
ENST00000644555.2:c.1624+834_1624+837del	ENSP00000494614.2:n.1624+834_1624+837del
ENST00000652672.2:c.4933+834_4933+837del	ENSP00000498906.2:n.4933+834_4933+837del
ENST00000484087.6:c.1636+834_1636+837del	ENSP00000419481.2:n.1636+834_1636+837del
ENST00000357654.9:c.5074+834_5074+837del MANE Select	ENSP00000350283.3:n.5074+834_5074+837del
ENST00000471181.7:c.5137+834_5137+837del	ENSP00000418960.2:n.5137+834_5137+837del
ENST00000644379.1:c.1461+834_1461+837del
ENST00000352993.7:c.1648+834_1648+837del	ENSP00000312236.5:n.1648+834_1648+837del
ENST00000357654.7:c.5074+834_5074+837del	ENSP00000350283.3:n.5074+834_5074+837del
ENST00000461221.5:c.*4857+834_*4857+837del	ENSP00000418548.1:n.*4857+834_*4857+837del
ENST00000468300.5:c.1762+834_1762+837del	ENSP00000417148.1:n.1762+834_1762+837del
ENST00000471181.6:c.5137+834_5137+837del	ENSP00000418960.2:n.5137+834_5137+837del
ENST00000478531.5:c.1762+834_1762+837del	ENSP00000420412.1:n.1762+834_1762+837del
ENST00000484087.5:c.1387+834_1387+837del	ENSP00000419481.1:n.1387+834_1387+837del
ENST00000491747.6:c.1762+834_1762+837del	ENSP00000420705.2:n.1762+834_1762+837del
ENST00000493795.5:c.4933+834_4933+837del	ENSP00000418775.1:n.4933+834_4933+837del
ENST00000493919.5:c.1624+834_1624+837del	ENSP00000418819.1:n.1624+834_1624+837del
ENST00000586385.5:c.5-2823_5-2820del	ENSP00000465818.1:n.5-2823_5-2820del
ENST00000591534.5:c.547+834_547+837del	ENSP00000467329.1:n.547+834_547+837del
ENST00000591849.5:c.-98-16584_-98-16581del	ENSP00000465347.1:n.-98-16584_-98-16581del
NM_007294.3:c.5074+834_5074+837del , LRG_292t1:c.5074+834_5074+837del	NP_009225.1:n.5074+834_5074+837del
NM_007297.3:c.4933+834_4933+837del	NP_009228.2:n.4933+834_4933+837del
NM_007298.3:c.1762+834_1762+837del	NP_009229.2:n.1762+834_1762+837del
NM_007299.3:c.1762+834_1762+837del	NP_009230.2:n.1762+834_1762+837del
NM_007300.3:c.5137+834_5137+837del	NP_009231.2:n.5137+834_5137+837del
NR_027676.1:n.5210+834_5210+837del
NM_007294.4:c.5074+834_5074+837del MANE Select	NP_009225.1:n.5074+834_5074+837del
NM_007297.4:c.4933+834_4933+837del	NP_009228.2:n.4933+834_4933+837del
NM_007299.4:c.1762+834_1762+837del	NP_009230.2:n.1762+834_1762+837del
NM_007300.4:c.5137+834_5137+837del	NP_009231.2:n.5137+834_5137+837del
NR_027676.2:n.5251+834_5251+837del