Canonical Allele Identifier: CA2638061779

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43067294-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067294_43067295insA , CM000679.2:g.43067294_43067295insA	GRCh38
NC_000017.10:g.41219311_41219312insA , CM000679.1:g.41219311_41219312insA	GRCh37
NC_000017.9:g.38472837_38472838insA	NCBI36
NG_005905.2:g.150689_150690insT , LRG_292:g.150689_150690insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5071+313_5071+314insT	ENSP00000417241.2:n.5071+313_5071+314insT
ENST00000470026.6:c.5074+313_5074+314insT	ENSP00000419274.2:n.5074+313_5074+314insT
ENST00000473961.6:c.4948+313_4948+314insT	ENSP00000420201.2:n.4948+313_4948+314insT
ENST00000476777.6:c.5068+313_5068+314insT	ENSP00000417554.2:n.5068+313_5068+314insT
ENST00000477152.6:c.4996+313_4996+314insT	ENSP00000419988.2:n.4996+313_4996+314insT
ENST00000478531.6:c.1762+313_1762+314insT	ENSP00000420412.2:n.1762+313_1762+314insT
ENST00000489037.2:c.4996+313_4996+314insT	ENSP00000420781.2:n.4996+313_4996+314insT
ENST00000493919.6:c.1624+313_1624+314insT	ENSP00000418819.2:n.1624+313_1624+314insT
ENST00000494123.6:c.5074+313_5074+314insT	ENSP00000419103.2:n.5074+313_5074+314insT
ENST00000497488.2:c.4186+313_4186+314insT	ENSP00000418986.2:n.4186+313_4186+314insT
ENST00000618469.2:c.5074+313_5074+314insT	ENSP00000478114.2:n.5074+313_5074+314insT
ENST00000634433.2:c.4951+313_4951+314insT	ENSP00000489431.2:n.4951+313_4951+314insT
ENST00000644379.2:c.5140+313_5140+314insT	ENSP00000496570.2:n.5140+313_5140+314insT
ENST00000644555.2:c.1624+313_1624+314insT	ENSP00000494614.2:n.1624+313_1624+314insT
ENST00000652672.2:c.4933+313_4933+314insT	ENSP00000498906.2:n.4933+313_4933+314insT
ENST00000484087.6:c.1636+313_1636+314insT	ENSP00000419481.2:n.1636+313_1636+314insT
ENST00000357654.9:c.5074+313_5074+314insT MANE Select	ENSP00000350283.3:n.5074+313_5074+314insT
ENST00000471181.7:c.5137+313_5137+314insT	ENSP00000418960.2:n.5137+313_5137+314insT
ENST00000644379.1:c.1461+313_1461+314insT
ENST00000352993.7:c.1648+313_1648+314insT	ENSP00000312236.5:n.1648+313_1648+314insT
ENST00000357654.7:c.5074+313_5074+314insT	ENSP00000350283.3:n.5074+313_5074+314insT
ENST00000461221.5:c.*4857+313_*4857+314insT	ENSP00000418548.1:n.*4857+313_*4857+314insT
ENST00000468300.5:c.1762+313_1762+314insT	ENSP00000417148.1:n.1762+313_1762+314insT
ENST00000471181.6:c.5137+313_5137+314insT	ENSP00000418960.2:n.5137+313_5137+314insT
ENST00000472490.1:n.540_541insT
ENST00000478531.5:c.1762+313_1762+314insT	ENSP00000420412.1:n.1762+313_1762+314insT
ENST00000484087.5:c.1387+313_1387+314insT	ENSP00000419481.1:n.1387+313_1387+314insT
ENST00000491747.6:c.1762+313_1762+314insT	ENSP00000420705.2:n.1762+313_1762+314insT
ENST00000493795.5:c.4933+313_4933+314insT	ENSP00000418775.1:n.4933+313_4933+314insT
ENST00000493919.5:c.1624+313_1624+314insT	ENSP00000418819.1:n.1624+313_1624+314insT
ENST00000586385.5:c.5-3344_5-3343insT	ENSP00000465818.1:n.5-3344_5-3343insT
ENST00000591534.5:c.547+313_547+314insT	ENSP00000467329.1:n.547+313_547+314insT
ENST00000591849.5:c.-98-17105_-98-17104insT	ENSP00000465347.1:n.-98-17105_-98-17104insT
NM_007294.3:c.5074+313_5074+314insT , LRG_292t1:c.5074+313_5074+314insT	NP_009225.1:n.5074+313_5074+314insT
NM_007297.3:c.4933+313_4933+314insT	NP_009228.2:n.4933+313_4933+314insT
NM_007298.3:c.1762+313_1762+314insT	NP_009229.2:n.1762+313_1762+314insT
NM_007299.3:c.1762+313_1762+314insT	NP_009230.2:n.1762+313_1762+314insT
NM_007300.3:c.5137+313_5137+314insT	NP_009231.2:n.5137+313_5137+314insT
NR_027676.1:n.5210+313_5210+314insT
NM_007294.4:c.5074+313_5074+314insT MANE Select	NP_009225.1:n.5074+313_5074+314insT
NM_007297.4:c.4933+313_4933+314insT	NP_009228.2:n.4933+313_4933+314insT
NM_007299.4:c.1762+313_1762+314insT	NP_009230.2:n.1762+313_1762+314insT
NM_007300.4:c.5137+313_5137+314insT	NP_009231.2:n.5137+313_5137+314insT
NR_027676.2:n.5251+313_5251+314insT