Canonical Allele Identifier: CA658761214

Gene: BRCA1

Linked Data

• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074433_43074436del , CM000679.2:g.43074433_43074436del	GRCh38
NC_000017.10:g.41226450_41226453del , CM000679.1:g.41226450_41226453del	GRCh37
NC_000017.9:g.38479976_38479979del	NCBI36
NG_005905.2:g.143548_143551del , LRG_292:g.143548_143551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4567_4570del	ENSP00000417241.2:p.Ser1523LysfsTer23
ENST00000470026.6:c.4570_4573del	ENSP00000419274.2:p.Ser1524LysfsTer23
ENST00000473961.6:c.4444_4447del	ENSP00000420201.2:p.Ser1482LysfsTer23
ENST00000476777.6:c.4564_4567del	ENSP00000417554.2:p.Ser1522LysfsTer23
ENST00000477152.6:c.4492_4495del	ENSP00000419988.2:p.Ser1498LysfsTer23
ENST00000478531.6:c.1258_1261del	ENSP00000420412.2:p.Ser420LysfsTer23
ENST00000489037.2:c.4492_4495del	ENSP00000420781.2:p.Ser1498LysfsTer23
ENST00000493919.6:c.1120_1123del	ENSP00000418819.2:p.Ser374LysfsTer23
ENST00000494123.6:c.4570_4573del	ENSP00000419103.2:p.Ser1524LysfsTer23
ENST00000497488.2:c.3682_3685del	ENSP00000418986.2:p.Ser1228LysfsTer23
ENST00000618469.2:c.4570_4573del	ENSP00000478114.2:p.Ser1524LysfsTer23
ENST00000634433.2:c.4447_4450del	ENSP00000489431.2:p.Ser1483LysfsTer23
ENST00000644379.2:c.4636_4639del	ENSP00000496570.2:p.Ser1546LysfsTer23
ENST00000644555.2:c.1120_1123del	ENSP00000494614.2:p.Ser374LysfsTer23
ENST00000652672.2:c.4429_4432del	ENSP00000498906.2:p.Ser1477LysfsTer23
ENST00000484087.6:c.1132_1135del	ENSP00000419481.2:p.Ser378LysfsTer23
ENST00000700182.1:c.1177_1180del	ENSP00000514849.1:p.Ser393LysfsTer23
ENST00000357654.9:c.4570_4573del MANE Select	ENSP00000350283.3:p.Ser1524LysfsTer23
ENST00000471181.7:c.4633_4636del	ENSP00000418960.2:p.Ser1545LysfsTer23
ENST00000644379.1:c.957_960del
ENST00000352993.7:c.1144_1147del	ENSP00000312236.5:p.Ser382LysfsTer23
ENST00000357654.7:c.4570_4573del	ENSP00000350283.3:p.Ser1524LysfsTer23
ENST00000461221.5:c.*4353_*4356del	ENSP00000418548.1:n.*4353_*4356del
ENST00000468300.5:c.1258_1261del	ENSP00000417148.1:p.Ser420LysfsTer23
ENST00000471181.6:c.4633_4636del	ENSP00000418960.2:p.Ser1545LysfsTer23
ENST00000478531.5:c.1258_1261del	ENSP00000420412.1:p.Ser420LysfsTer23
ENST00000484087.5:c.883_886del	ENSP00000419481.1:p.Ser295LysfsTer23
ENST00000491747.6:c.1258_1261del	ENSP00000420705.2:p.Ser420LysfsTer23
ENST00000493795.5:c.4429_4432del	ENSP00000418775.1:p.Ser1477LysfsTer23
ENST00000493919.5:c.1120_1123del	ENSP00000418819.1:p.Ser374LysfsTer23
ENST00000586385.5:c.5-10485_5-10482del	ENSP00000465818.1:n.5-10485_5-10482del
ENST00000591534.5:c.43_46del	ENSP00000467329.1:p.Ser15LysfsTer23
ENST00000591849.5:c.-98-24246_-98-24243del	ENSP00000465347.1:n.-98-24246_-98-24243del
NM_007294.3:c.4570_4573del , LRG_292t1:c.4570_4573del	NP_009225.1:p.Ser1524LysfsTer23
NM_007297.3:c.4429_4432del	NP_009228.2:p.Ser1477LysfsTer23
NM_007298.3:c.1258_1261del	NP_009229.2:p.Ser420LysfsTer23
NM_007299.3:c.1258_1261del	NP_009230.2:p.Ser420LysfsTer23
NM_007300.3:c.4633_4636del	NP_009231.2:p.Ser1545LysfsTer23
NR_027676.1:n.4706_4709del
NM_007294.4:c.4570_4573del MANE Select	NP_009225.1:p.Ser1524LysfsTer23
NM_007297.4:c.4429_4432del	NP_009228.2:p.Ser1477LysfsTer23
NM_007299.4:c.1258_1261del	NP_009230.2:p.Ser420LysfsTer23
NM_007300.4:c.4633_4636del	NP_009231.2:p.Ser1545LysfsTer23
NR_027676.2:n.4747_4750del