Canonical Allele Identifier: CA2573154048

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1687128
• ClinVar RCV Id: RCV002250810
• dbSNP Id: rs2153997899

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074379_43074383del , CM000679.2:g.43074379_43074383del	GRCh38
NC_000017.10:g.41226396_41226400del , CM000679.1:g.41226396_41226400del	GRCh37
NC_000017.9:g.38479922_38479926del	NCBI36
NG_005905.2:g.143602_143606del , LRG_292:g.143602_143606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4621_4625del	ENSP00000417241.2:p.Ser1541AlafsTer30
ENST00000470026.6:c.4624_4628del	ENSP00000419274.2:p.Ser1542AlafsTer30
ENST00000473961.6:c.4498_4502del	ENSP00000420201.2:p.Ser1500AlafsTer30
ENST00000476777.6:c.4618_4622del	ENSP00000417554.2:p.Ser1540AlafsTer30
ENST00000477152.6:c.4546_4550del	ENSP00000419988.2:p.Ser1516AlafsTer30
ENST00000478531.6:c.1312_1316del	ENSP00000420412.2:p.Ser438AlafsTer30
ENST00000489037.2:c.4546_4550del	ENSP00000420781.2:p.Ser1516AlafsTer30
ENST00000493919.6:c.1174_1178del	ENSP00000418819.2:p.Ser392AlafsTer30
ENST00000494123.6:c.4624_4628del	ENSP00000419103.2:p.Ser1542AlafsTer30
ENST00000497488.2:c.3736_3740del	ENSP00000418986.2:p.Ser1246AlafsTer30
ENST00000618469.2:c.4624_4628del	ENSP00000478114.2:p.Ser1542AlafsTer30
ENST00000634433.2:c.4501_4505del	ENSP00000489431.2:p.Ser1501AlafsTer30
ENST00000644379.2:c.4690_4694del	ENSP00000496570.2:p.Ser1564AlafsTer30
ENST00000644555.2:c.1174_1178del	ENSP00000494614.2:p.Ser392AlafsTer30
ENST00000652672.2:c.4483_4487del	ENSP00000498906.2:p.Ser1495AlafsTer30
ENST00000484087.6:c.1186_1190del	ENSP00000419481.2:p.Ser396AlafsTer30
ENST00000700182.1:c.1231_1235del	ENSP00000514849.1:p.Ser411AlafsTer30
ENST00000357654.9:c.4624_4628del MANE Select	ENSP00000350283.3:p.Ser1542AlafsTer30
ENST00000471181.7:c.4687_4691del	ENSP00000418960.2:p.Ser1563AlafsTer30
ENST00000644379.1:c.1011_1015del
ENST00000352993.7:c.1198_1202del	ENSP00000312236.5:p.Ser400AlafsTer30
ENST00000357654.7:c.4624_4628del	ENSP00000350283.3:p.Ser1542AlafsTer30
ENST00000461221.5:c.*4407_*4411del	ENSP00000418548.1:n.*4407_*4411del
ENST00000468300.5:c.1312_1316del	ENSP00000417148.1:p.Ser438AlafsTer30
ENST00000471181.6:c.4687_4691del	ENSP00000418960.2:p.Ser1563AlafsTer30
ENST00000478531.5:c.1312_1316del	ENSP00000420412.1:p.Ser438AlafsTer30
ENST00000484087.5:c.937_941del	ENSP00000419481.1:p.Ser313AlafsTer30
ENST00000491747.6:c.1312_1316del	ENSP00000420705.2:p.Ser438AlafsTer30
ENST00000493795.5:c.4483_4487del	ENSP00000418775.1:p.Ser1495AlafsTer30
ENST00000493919.5:c.1174_1178del	ENSP00000418819.1:p.Ser392AlafsTer30
ENST00000586385.5:c.5-10431_5-10427del	ENSP00000465818.1:n.5-10431_5-10427del
ENST00000591534.5:c.97_101del	ENSP00000467329.1:p.Ser33AlafsTer30
ENST00000591849.5:c.-98-24192_-98-24188del	ENSP00000465347.1:n.-98-24192_-98-24188del
NM_007294.3:c.4624_4628del , LRG_292t1:c.4624_4628del	NP_009225.1:p.Ser1542AlafsTer30
NM_007297.3:c.4483_4487del	NP_009228.2:p.Ser1495AlafsTer30
NM_007298.3:c.1312_1316del	NP_009229.2:p.Ser438AlafsTer30
NM_007299.3:c.1312_1316del	NP_009230.2:p.Ser438AlafsTer30
NM_007300.3:c.4687_4691del	NP_009231.2:p.Ser1563AlafsTer30
NR_027676.1:n.4760_4764del
NM_007294.4:c.4624_4628del MANE Select	NP_009225.1:p.Ser1542AlafsTer30
NM_007297.4:c.4483_4487del	NP_009228.2:p.Ser1495AlafsTer30
NM_007299.4:c.1312_1316del	NP_009230.2:p.Ser438AlafsTer30
NM_007300.4:c.4687_4691del	NP_009231.2:p.Ser1563AlafsTer30
NR_027676.2:n.4801_4805del