Canonical Allele Identifier: CA2573054441

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1319805
• ClinVar RCV Id: RCV003238059
• dbSNP Id: rs2154251360

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090958del , CM000679.2:g.43090958del	GRCh38
NC_000017.10:g.41242975del , CM000679.1:g.41242975del	GRCh37
NC_000017.9:g.38496501del	NCBI36
NG_005905.2:g.127026del , LRG_292:g.127026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4171del	ENSP00000417241.2:p.Ile1391PhefsTer2
ENST00000470026.6:c.4171del	ENSP00000419274.2:p.Ile1391PhefsTer2
ENST00000473961.6:c.4045del	ENSP00000420201.2:p.Ile1349PhefsTer2
ENST00000476777.6:c.4168del	ENSP00000417554.2:p.Ile1390PhefsTer2
ENST00000477152.6:c.4093del	ENSP00000419988.2:p.Ile1365PhefsTer2
ENST00000478531.6:c.859del	ENSP00000420412.2:p.Ile287PhefsTer2
ENST00000489037.2:c.4093del	ENSP00000420781.2:p.Ile1365PhefsTer2
ENST00000493919.6:c.721del	ENSP00000418819.2:p.Ile241PhefsTer2
ENST00000494123.6:c.4171del	ENSP00000419103.2:p.Ile1391PhefsTer2
ENST00000497488.2:c.3283del	ENSP00000418986.2:p.Ile1095PhefsTer2
ENST00000618469.2:c.4171del	ENSP00000478114.2:p.Ile1391PhefsTer2
ENST00000634433.2:c.4048del	ENSP00000489431.2:p.Ile1350PhefsTer2
ENST00000644379.2:c.4171del	ENSP00000496570.2:p.Ile1391PhefsTer2
ENST00000644555.2:c.721del	ENSP00000494614.2:p.Ile241PhefsTer2
ENST00000652672.2:c.4030del	ENSP00000498906.2:p.Ile1344PhefsTer2
ENST00000484087.6:c.739del	ENSP00000419481.2:p.Ile247PhefsTer2
ENST00000700182.1:c.781del	ENSP00000514849.1:p.Ile261PhefsTer2
ENST00000357654.9:c.4171del MANE Select	ENSP00000350283.3:p.Ile1391PhefsTer2
ENST00000471181.7:c.4171del	ENSP00000418960.2:p.Ile1391PhefsTer2
ENST00000644379.1:c.492del
ENST00000352993.7:c.745del	ENSP00000312236.5:p.Ile249PhefsTer2
ENST00000357654.7:c.4171del	ENSP00000350283.3:p.Ile1391PhefsTer2
ENST00000461221.5:c.*3954del	ENSP00000418548.1:n.*3954del
ENST00000461574.1:c.465del
ENST00000468300.5:c.862del	ENSP00000417148.1:p.Ile288PhefsTer2
ENST00000471181.6:c.4171del	ENSP00000418960.2:p.Ile1391PhefsTer2
ENST00000478531.5:c.859del	ENSP00000420412.1:p.Ile287PhefsTer2
ENST00000484087.5:c.484del	ENSP00000419481.1:p.Ile162PhefsTer2
ENST00000487825.5:c.487del	ENSP00000418212.1:p.Ile163PhefsTer2
ENST00000491747.6:c.862del	ENSP00000420705.2:p.Ile288PhefsTer2
ENST00000493795.5:c.4030del	ENSP00000418775.1:p.Ile1344PhefsTer2
ENST00000493919.5:c.721del	ENSP00000418819.1:p.Ile241PhefsTer2
ENST00000586385.5:c.5-27007del	ENSP00000465818.1:n.5-27007del
ENST00000591534.5:c.-43-16437del	ENSP00000467329.1:n.-43-16437del
ENST00000591849.5:c.-99+34313del	ENSP00000465347.1:n.-99+34313del
NM_007294.3:c.4171del , LRG_292t1:c.4171del	NP_009225.1:p.Ile1391PhefsTer2
NM_007297.3:c.4030del	NP_009228.2:p.Ile1344PhefsTer2
NM_007298.3:c.862del	NP_009229.2:p.Ile288PhefsTer2
NM_007299.3:c.862del	NP_009230.2:p.Ile288PhefsTer2
NM_007300.3:c.4171del	NP_009231.2:p.Ile1391PhefsTer2
NR_027676.1:n.4307del
NM_007294.4:c.4171del MANE Select	NP_009225.1:p.Ile1391PhefsTer2
NM_007297.4:c.4030del	NP_009228.2:p.Ile1344PhefsTer2
NM_007299.4:c.862del	NP_009230.2:p.Ile288PhefsTer2
NM_007300.4:c.4171del	NP_009231.2:p.Ile1391PhefsTer2
NR_027676.2:n.4348del