Canonical Allele Identifier: CA1139768331

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1687133
• ClinVar RCV Id: RCV002250815
• dbSNP Id: rs886040225

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082421del , CM000679.2:g.43082421del	GRCh38
NC_000017.10:g.41234438del , CM000679.1:g.41234438del	GRCh37
NC_000017.9:g.38487964del	NCBI36
NG_005905.2:g.135565del , LRG_292:g.135565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4342del	ENSP00000417241.2:p.Ser1448AlafsTer7
ENST00000470026.6:c.4342del	ENSP00000419274.2:p.Ser1448AlafsTer8
ENST00000473961.6:c.4216del	ENSP00000420201.2:p.Ser1406AlafsTer8
ENST00000476777.6:c.4336del	ENSP00000417554.2:p.Ser1446AlafsTer8
ENST00000477152.6:c.4264del	ENSP00000419988.2:p.Ser1422AlafsTer8
ENST00000478531.6:c.1030del	ENSP00000420412.2:p.Ser344AlafsTer8
ENST00000489037.2:c.4264del	ENSP00000420781.2:p.Ser1422AlafsTer8
ENST00000493919.6:c.892del	ENSP00000418819.2:p.Ser298AlafsTer8
ENST00000494123.6:c.4342del	ENSP00000419103.2:p.Ser1448AlafsTer8
ENST00000497488.2:c.3454del	ENSP00000418986.2:p.Ser1152AlafsTer8
ENST00000618469.2:c.4342del	ENSP00000478114.2:p.Ser1448AlafsTer8
ENST00000634433.2:c.4219del	ENSP00000489431.2:p.Ser1407AlafsTer8
ENST00000644379.2:c.4342del	ENSP00000496570.2:p.Ser1448AlafsTer30
ENST00000644555.2:c.892del	ENSP00000494614.2:p.Ser298AlafsTer8
ENST00000652672.2:c.4201del	ENSP00000498906.2:p.Ser1401AlafsTer8
ENST00000484087.6:c.907del	ENSP00000419481.2:p.Ser303AlafsTer7
ENST00000700182.1:c.952del	ENSP00000514849.1:p.Ser318AlafsTer7
ENST00000357654.9:c.4342del MANE Select	ENSP00000350283.3:p.Ser1448AlafsTer8
ENST00000471181.7:c.4342del	ENSP00000418960.2:p.Ser1448AlafsTer29
ENST00000644379.1:c.663del
ENST00000352993.7:c.916del	ENSP00000312236.5:p.Ser306AlafsTer8
ENST00000357654.7:c.4342del	ENSP00000350283.3:p.Ser1448AlafsTer8
ENST00000461221.5:c.*4125del	ENSP00000418548.1:n.*4125del
ENST00000461574.1:c.636del
ENST00000468300.5:c.1033del	ENSP00000417148.1:p.Ser345AlafsTer7
ENST00000471181.6:c.4342del	ENSP00000418960.2:p.Ser1448AlafsTer29
ENST00000478531.5:c.1030del	ENSP00000420412.1:p.Ser344AlafsTer8
ENST00000484087.5:c.655del	ENSP00000419481.1:p.Ser219AlafsTer8
ENST00000487825.5:c.658del	ENSP00000418212.1:p.Ser220AlafsTer8
ENST00000491747.6:c.1033del	ENSP00000420705.2:p.Ser345AlafsTer7
ENST00000493795.5:c.4201del	ENSP00000418775.1:p.Ser1401AlafsTer8
ENST00000493919.5:c.892del	ENSP00000418819.1:p.Ser298AlafsTer8
ENST00000586385.5:c.5-18468del	ENSP00000465818.1:n.5-18468del
ENST00000591534.5:c.-43-7898del	ENSP00000467329.1:n.-43-7898del
ENST00000591849.5:c.-98-32229del	ENSP00000465347.1:n.-98-32229del
ENST00000621897.1:n.236del
NM_007294.3:c.4342del , LRG_292t1:c.4342del	NP_009225.1:p.Ser1448AlafsTer8
NM_007297.3:c.4201del	NP_009228.2:p.Ser1401AlafsTer8
NM_007298.3:c.1033del	NP_009229.2:p.Ser345AlafsTer7
NM_007299.3:c.1033del	NP_009230.2:p.Ser345AlafsTer7
NM_007300.3:c.4342del	NP_009231.2:p.Ser1448AlafsTer29
NR_027676.1:n.4478del
NM_007294.4:c.4342del MANE Select	NP_009225.1:p.Ser1448AlafsTer8
NM_007297.4:c.4201del	NP_009228.2:p.Ser1401AlafsTer8
NM_007299.4:c.1033del	NP_009230.2:p.Ser345AlafsTer7
NM_007300.4:c.4342del	NP_009231.2:p.Ser1448AlafsTer29
NR_027676.2:n.4519del