Canonical Allele Identifier: CA983875961

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43066783-T-TAA
• gnomAD v4: 17-43066783-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43066783_43066784insAA , CM000679.2:g.43066783_43066784insAA	GRCh38
NC_000017.10:g.41218800_41218801insAA , CM000679.1:g.41218800_41218801insAA	GRCh37
NC_000017.9:g.38472326_38472327insAA	NCBI36
NG_005905.2:g.151200_151201insTT , LRG_292:g.151200_151201insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+824_5071+825insTT	ENSP00000417241.2:n.5071+824_5071+825insTT
ENST00000470026.6:c.5074+824_5074+825insTT	ENSP00000419274.2:n.5074+824_5074+825insTT
ENST00000473961.6:c.4948+824_4948+825insTT	ENSP00000420201.2:n.4948+824_4948+825insTT
ENST00000476777.6:c.5068+824_5068+825insTT	ENSP00000417554.2:n.5068+824_5068+825insTT
ENST00000477152.6:c.4996+824_4996+825insTT	ENSP00000419988.2:n.4996+824_4996+825insTT
ENST00000478531.6:c.1762+824_1762+825insTT	ENSP00000420412.2:n.1762+824_1762+825insTT
ENST00000489037.2:c.4996+824_4996+825insTT	ENSP00000420781.2:n.4996+824_4996+825insTT
ENST00000493919.6:c.1624+824_1624+825insTT	ENSP00000418819.2:n.1624+824_1624+825insTT
ENST00000494123.6:c.5074+824_5074+825insTT	ENSP00000419103.2:n.5074+824_5074+825insTT
ENST00000497488.2:c.4186+824_4186+825insTT	ENSP00000418986.2:n.4186+824_4186+825insTT
ENST00000618469.2:c.5074+824_5074+825insTT	ENSP00000478114.2:n.5074+824_5074+825insTT
ENST00000634433.2:c.4951+824_4951+825insTT	ENSP00000489431.2:n.4951+824_4951+825insTT
ENST00000644379.2:c.5140+824_5140+825insTT	ENSP00000496570.2:n.5140+824_5140+825insTT
ENST00000644555.2:c.1624+824_1624+825insTT	ENSP00000494614.2:n.1624+824_1624+825insTT
ENST00000652672.2:c.4933+824_4933+825insTT	ENSP00000498906.2:n.4933+824_4933+825insTT
ENST00000484087.6:c.1636+824_1636+825insTT	ENSP00000419481.2:n.1636+824_1636+825insTT
ENST00000357654.9:c.5074+824_5074+825insTT MANE Select	ENSP00000350283.3:n.5074+824_5074+825insTT
ENST00000471181.7:c.5137+824_5137+825insTT	ENSP00000418960.2:n.5137+824_5137+825insTT
ENST00000644379.1:c.1461+824_1461+825insTT
ENST00000352993.7:c.1648+824_1648+825insTT	ENSP00000312236.5:n.1648+824_1648+825insTT
ENST00000357654.7:c.5074+824_5074+825insTT	ENSP00000350283.3:n.5074+824_5074+825insTT
ENST00000461221.5:c.*4857+824_*4857+825insTT	ENSP00000418548.1:n.*4857+824_*4857+825insTT
ENST00000468300.5:c.1762+824_1762+825insTT	ENSP00000417148.1:n.1762+824_1762+825insTT
ENST00000471181.6:c.5137+824_5137+825insTT	ENSP00000418960.2:n.5137+824_5137+825insTT
ENST00000478531.5:c.1762+824_1762+825insTT	ENSP00000420412.1:n.1762+824_1762+825insTT
ENST00000484087.5:c.1387+824_1387+825insTT	ENSP00000419481.1:n.1387+824_1387+825insTT
ENST00000491747.6:c.1762+824_1762+825insTT	ENSP00000420705.2:n.1762+824_1762+825insTT
ENST00000493795.5:c.4933+824_4933+825insTT	ENSP00000418775.1:n.4933+824_4933+825insTT
ENST00000493919.5:c.1624+824_1624+825insTT	ENSP00000418819.1:n.1624+824_1624+825insTT
ENST00000586385.5:c.5-2833_5-2832insTT	ENSP00000465818.1:n.5-2833_5-2832insTT
ENST00000591534.5:c.547+824_547+825insTT	ENSP00000467329.1:n.547+824_547+825insTT
ENST00000591849.5:c.-98-16594_-98-16593insTT	ENSP00000465347.1:n.-98-16594_-98-16593insTT
NM_007294.3:c.5074+824_5074+825insTT , LRG_292t1:c.5074+824_5074+825insTT	NP_009225.1:n.5074+824_5074+825insTT
NM_007297.3:c.4933+824_4933+825insTT	NP_009228.2:n.4933+824_4933+825insTT
NM_007298.3:c.1762+824_1762+825insTT	NP_009229.2:n.1762+824_1762+825insTT
NM_007299.3:c.1762+824_1762+825insTT	NP_009230.2:n.1762+824_1762+825insTT
NM_007300.3:c.5137+824_5137+825insTT	NP_009231.2:n.5137+824_5137+825insTT
NR_027676.1:n.5210+824_5210+825insTT
NM_007294.4:c.5074+824_5074+825insTT MANE Select	NP_009225.1:n.5074+824_5074+825insTT
NM_007297.4:c.4933+824_4933+825insTT	NP_009228.2:n.4933+824_4933+825insTT
NM_007299.4:c.1762+824_1762+825insTT	NP_009230.2:n.1762+824_1762+825insTT
NM_007300.4:c.5137+824_5137+825insTT	NP_009231.2:n.5137+824_5137+825insTT
NR_027676.2:n.5251+824_5251+825insTT