Canonical Allele Identifier: CA060141

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2862396
• ClinVar RCV Id: RCV003644672 ; RCV004371875
• dbSNP Id: rs776362840
• ExAC: 17:41228657 CTACTT / C
• gnomAD v2: 17-41228657-CTACTT-C
• gnomAD v3: 17-43076640-CTACTT-C
• gnomAD v4: 17-43076640-CTACTT-C
• MyVariant Identifiers: chr17:g.41228658_41228662del (hg19) ; chr17:g.43076641_43076645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076645_43076649del , CM000679.2:g.43076645_43076649del	GRCh38
NC_000017.10:g.41228662_41228666del , CM000679.1:g.41228662_41228666del	GRCh37
NC_000017.9:g.38482188_38482192del	NCBI36
NG_005905.2:g.141339_141343del , LRG_292:g.141339_141343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4358-34_4358-30del	ENSP00000417241.2:n.4358-34_4358-30del
ENST00000470026.6:c.4358-31_4358-27del	ENSP00000419274.2:n.4358-31_4358-27del
ENST00000473961.6:c.4232-31_4232-27del	ENSP00000420201.2:n.4232-31_4232-27del
ENST00000476777.6:c.4352-31_4352-27del	ENSP00000417554.2:n.4352-31_4352-27del
ENST00000477152.6:c.4280-31_4280-27del	ENSP00000419988.2:n.4280-31_4280-27del
ENST00000478531.6:c.1046-31_1046-27del	ENSP00000420412.2:n.1046-31_1046-27del
ENST00000489037.2:c.4280-31_4280-27del	ENSP00000420781.2:n.4280-31_4280-27del
ENST00000493919.6:c.908-31_908-27del	ENSP00000418819.2:n.908-31_908-27del
ENST00000494123.6:c.4358-31_4358-27del	ENSP00000419103.2:n.4358-31_4358-27del
ENST00000497488.2:c.3470-31_3470-27del	ENSP00000418986.2:n.3470-31_3470-27del
ENST00000618469.2:c.4358-31_4358-27del	ENSP00000478114.2:n.4358-31_4358-27del
ENST00000634433.2:c.4235-31_4235-27del	ENSP00000489431.2:n.4235-31_4235-27del
ENST00000644379.2:c.4424-31_4424-27del	ENSP00000496570.2:n.4424-31_4424-27del
ENST00000644555.2:c.908-31_908-27del	ENSP00000494614.2:n.908-31_908-27del
ENST00000652672.2:c.4217-31_4217-27del	ENSP00000498906.2:n.4217-31_4217-27del
ENST00000484087.6:c.923-34_923-30del	ENSP00000419481.2:n.923-34_923-30del
ENST00000700182.1:c.968-34_968-30del	ENSP00000514849.1:n.968-34_968-30del
ENST00000357654.9:c.4358-31_4358-27del MANE Select	ENSP00000350283.3:n.4358-31_4358-27del
ENST00000471181.7:c.4424-34_4424-30del	ENSP00000418960.2:n.4424-34_4424-30del
ENST00000644379.1:c.745-31_745-27del
ENST00000352993.7:c.932-31_932-27del	ENSP00000312236.5:n.932-31_932-27del
ENST00000357654.7:c.4358-31_4358-27del	ENSP00000350283.3:n.4358-31_4358-27del
ENST00000461221.5:c.*4141-31_*4141-27del	ENSP00000418548.1:n.*4141-31_*4141-27del
ENST00000461574.1:c.652-34_652-30del
ENST00000468300.5:c.1049-34_1049-30del	ENSP00000417148.1:n.1049-34_1049-30del
ENST00000471181.6:c.4424-34_4424-30del	ENSP00000418960.2:n.4424-34_4424-30del
ENST00000478531.5:c.1046-31_1046-27del	ENSP00000420412.1:n.1046-31_1046-27del
ENST00000484087.5:c.671-31_671-27del	ENSP00000419481.1:n.671-31_671-27del
ENST00000487825.5:c.674-31_674-27del	ENSP00000418212.1:n.674-31_674-27del
ENST00000491747.6:c.1049-34_1049-30del	ENSP00000420705.2:n.1049-34_1049-30del
ENST00000493795.5:c.4217-31_4217-27del	ENSP00000418775.1:n.4217-31_4217-27del
ENST00000493919.5:c.908-31_908-27del	ENSP00000418819.1:n.908-31_908-27del
ENST00000586385.5:c.5-12694_5-12690del	ENSP00000465818.1:n.5-12694_5-12690del
ENST00000591534.5:c.-43-2124_-43-2120del	ENSP00000467329.1:n.-43-2124_-43-2120del
ENST00000591849.5:c.-98-26455_-98-26451del	ENSP00000465347.1:n.-98-26455_-98-26451del
ENST00000621897.1:n.252-34_252-30del
NM_007294.3:c.4358-31_4358-27del , LRG_292t1:c.4358-31_4358-27del	NP_009225.1:n.4358-31_4358-27del
NM_007297.3:c.4217-31_4217-27del	NP_009228.2:n.4217-31_4217-27del
NM_007298.3:c.1049-34_1049-30del	NP_009229.2:n.1049-34_1049-30del
NM_007299.3:c.1049-34_1049-30del	NP_009230.2:n.1049-34_1049-30del
NM_007300.3:c.4424-34_4424-30del	NP_009231.2:n.4424-34_4424-30del
NR_027676.1:n.4494-31_4494-27del
NM_007294.4:c.4358-31_4358-27del MANE Select	NP_009225.1:n.4358-31_4358-27del
NM_007297.4:c.4217-31_4217-27del	NP_009228.2:n.4217-31_4217-27del
NM_007299.4:c.1049-34_1049-30del	NP_009230.2:n.1049-34_1049-30del
NM_007300.4:c.4424-34_4424-30del	NP_009231.2:n.4424-34_4424-30del
NR_027676.2:n.4535-31_4535-27del