Canonical Allele Identifier: CA10589662

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266477
• ClinVar RCV Id: RCV000257873 ; RCV000496421
• dbSNP Id: rs886040232
• MyVariant Identifiers: chr17:g.41228515_41228536del (hg19) ; chr17:g.43076498_43076519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076498_43076519del , CM000679.2:g.43076498_43076519del	GRCh38
NC_000017.10:g.41228515_41228536del , CM000679.1:g.41228515_41228536del	GRCh37
NC_000017.9:g.38482041_38482062del	NCBI36
NG_005905.2:g.141465_141486del , LRG_292:g.141465_141486del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4450_4471del	ENSP00000417241.2:p.Thr1484GlufsTer13
ENST00000470026.6:c.4453_4474del	ENSP00000419274.2:p.Thr1485GlufsTer13
ENST00000473961.6:c.4327_4348del	ENSP00000420201.2:p.Thr1443GlufsTer13
ENST00000476777.6:c.4447_4468del	ENSP00000417554.2:p.Thr1483GlufsTer13
ENST00000477152.6:c.4375_4396del	ENSP00000419988.2:p.Thr1459GlufsTer13
ENST00000478531.6:c.1141_1162del	ENSP00000420412.2:p.Thr381GlufsTer13
ENST00000489037.2:c.4375_4396del	ENSP00000420781.2:p.Thr1459GlufsTer13
ENST00000493919.6:c.1003_1024del	ENSP00000418819.2:p.Thr335GlufsTer13
ENST00000494123.6:c.4453_4474del	ENSP00000419103.2:p.Thr1485GlufsTer13
ENST00000497488.2:c.3565_3586del	ENSP00000418986.2:p.Thr1189GlufsTer13
ENST00000618469.2:c.4453_4474del	ENSP00000478114.2:p.Thr1485GlufsTer13
ENST00000634433.2:c.4330_4351del	ENSP00000489431.2:p.Thr1444GlufsTer13
ENST00000644379.2:c.4519_4540del	ENSP00000496570.2:p.Thr1507GlufsTer13
ENST00000644555.2:c.1003_1024del	ENSP00000494614.2:p.Thr335GlufsTer13
ENST00000652672.2:c.4312_4333del	ENSP00000498906.2:p.Thr1438GlufsTer13
ENST00000484087.6:c.1015_1036del	ENSP00000419481.2:p.Thr339GlufsTer13
ENST00000700182.1:c.1060_1081del	ENSP00000514849.1:p.Thr354GlufsTer13
ENST00000357654.9:c.4453_4474del MANE Select	ENSP00000350283.3:p.Thr1485GlufsTer13
ENST00000471181.7:c.4516_4537del	ENSP00000418960.2:p.Thr1506GlufsTer13
ENST00000644379.1:c.840_861del
ENST00000352993.7:c.1027_1048del	ENSP00000312236.5:p.Thr343GlufsTer13
ENST00000357654.7:c.4453_4474del	ENSP00000350283.3:p.Thr1485GlufsTer13
ENST00000461221.5:c.*4236_*4257del	ENSP00000418548.1:n.*4236_*4257del
ENST00000468300.5:c.1141_1162del	ENSP00000417148.1:p.Thr381GlufsTer13
ENST00000471181.6:c.4516_4537del	ENSP00000418960.2:p.Thr1506GlufsTer13
ENST00000478531.5:c.1141_1162del	ENSP00000420412.1:p.Thr381GlufsTer13
ENST00000484087.5:c.766_787del	ENSP00000419481.1:p.Thr256GlufsTer13
ENST00000487825.5:c.769_790del	ENSP00000418212.1:p.Thr257GlufsTer?
ENST00000491747.6:c.1141_1162del	ENSP00000420705.2:p.Thr381GlufsTer13
ENST00000493795.5:c.4312_4333del	ENSP00000418775.1:p.Thr1438GlufsTer13
ENST00000493919.5:c.1003_1024del	ENSP00000418819.1:p.Thr335GlufsTer13
ENST00000586385.5:c.5-12568_5-12547del	ENSP00000465818.1:n.5-12568_5-12547del
ENST00000591534.5:c.-43-1998_-43-1977del	ENSP00000467329.1:n.-43-1998_-43-1977del
ENST00000591849.5:c.-98-26329_-98-26308del	ENSP00000465347.1:n.-98-26329_-98-26308de...
ENST00000621897.1:n.344_365del
NM_007294.3:c.4453_4474del , LRG_292t1:c.4453_4474del	NP_009225.1:p.Thr1485GlufsTer13
NM_007297.3:c.4312_4333del	NP_009228.2:p.Thr1438GlufsTer13
NM_007298.3:c.1141_1162del	NP_009229.2:p.Thr381GlufsTer13
NM_007299.3:c.1141_1162del	NP_009230.2:p.Thr381GlufsTer13
NM_007300.3:c.4516_4537del	NP_009231.2:p.Thr1506GlufsTer13
NR_027676.1:n.4589_4610del
NM_007294.4:c.4453_4474del MANE Select	NP_009225.1:p.Thr1485GlufsTer13
NM_007297.4:c.4312_4333del	NP_009228.2:p.Thr1438GlufsTer13
NM_007299.4:c.1141_1162del	NP_009230.2:p.Thr381GlufsTer13
NM_007300.4:c.4516_4537del	NP_009231.2:p.Thr1506GlufsTer13
NR_027676.2:n.4630_4651del