Canonical Allele Identifier: CA645578315

Gene: BRCA1

Linked Data

• COSMIC: COSM1577246

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091766_43091770del , CM000679.2:g.43091766_43091770del	GRCh38
NC_000017.10:g.41243783_41243787del , CM000679.1:g.41243783_41243787del	GRCh37
NC_000017.9:g.38497309_38497313del	NCBI36
NG_005905.2:g.126215_126219del , LRG_292:g.126215_126219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3826_3830del
ENST00000461574.2:c.3762_3766del	ENSP00000417241.2:p.Lys1254AsnfsTer11
ENST00000470026.6:c.3762_3766del	ENSP00000419274.2:p.Lys1254AsnfsTer11
ENST00000473961.6:c.3636_3640del	ENSP00000420201.2:p.Lys1212AsnfsTer11
ENST00000476777.6:c.3759_3763del	ENSP00000417554.2:p.Lys1253AsnfsTer11
ENST00000477152.6:c.3684_3688del	ENSP00000419988.2:p.Lys1228AsnfsTer11
ENST00000478531.6:c.785-737_785-733del	ENSP00000420412.2:n.785-737_785-733del
ENST00000489037.2:c.3684_3688del	ENSP00000420781.2:p.Lys1228AsnfsTer11
ENST00000493919.6:c.647-737_647-733del	ENSP00000418819.2:n.647-737_647-733del
ENST00000494123.6:c.3762_3766del	ENSP00000419103.2:p.Lys1254AsnfsTer11
ENST00000497488.2:c.2874_2878del	ENSP00000418986.2:p.Lys958AsnfsTer11
ENST00000618469.2:c.3762_3766del	ENSP00000478114.2:p.Lys1254AsnfsTer11
ENST00000634433.2:c.3639_3643del	ENSP00000489431.2:p.Lys1213AsnfsTer11
ENST00000644379.2:c.3762_3766del	ENSP00000496570.2:p.Lys1254AsnfsTer11
ENST00000644555.2:c.647-737_647-733del	ENSP00000494614.2:n.647-737_647-733del
ENST00000652672.2:c.3621_3625del	ENSP00000498906.2:p.Lys1207AsnfsTer11
ENST00000484087.6:c.665-737_665-733del	ENSP00000419481.2:n.665-737_665-733del
ENST00000700182.1:c.707-737_707-733del	ENSP00000514849.1:n.707-737_707-733del
ENST00000357654.9:c.3762_3766del MANE Select	ENSP00000350283.3:p.Lys1254AsnfsTer11
ENST00000471181.7:c.3762_3766del	ENSP00000418960.2:p.Lys1254AsnfsTer11
ENST00000644379.1:c.83_87del
ENST00000352993.7:c.671-737_671-733del	ENSP00000312236.5:n.671-737_671-733del
ENST00000354071.7:c.3762_3766del	ENSP00000326002.7:p.Lys1254AsnfsTer11
ENST00000357654.7:c.3762_3766del	ENSP00000350283.3:p.Lys1254AsnfsTer11
ENST00000461221.5:c.*3545_*3549del	ENSP00000418548.1:n.*3545_*3549del
ENST00000461574.1:c.56_60del
ENST00000468300.5:c.788-737_788-733del	ENSP00000417148.1:n.788-737_788-733del
ENST00000471181.6:c.3762_3766del	ENSP00000418960.2:p.Lys1254AsnfsTer11
ENST00000478531.5:c.785-737_785-733del	ENSP00000420412.1:n.785-737_785-733del
ENST00000484087.5:c.410-737_410-733del	ENSP00000419481.1:n.410-737_410-733del
ENST00000487825.5:c.413-737_413-733del	ENSP00000418212.1:n.413-737_413-733del
ENST00000491747.6:c.788-737_788-733del	ENSP00000420705.2:n.788-737_788-733del
ENST00000493795.5:c.3621_3625del	ENSP00000418775.1:p.Lys1207AsnfsTer11
ENST00000493919.5:c.647-737_647-733del	ENSP00000418819.1:n.647-737_647-733del
ENST00000586385.5:c.5-27818_5-27814del	ENSP00000465818.1:n.5-27818_5-27814del
ENST00000591534.5:c.-43-17248_-43-17244del	ENSP00000467329.1:n.-43-17248_-43-17244de...
ENST00000591849.5:c.-99+33502_-99+33506del	ENSP00000465347.1:n.-99+33502_-99+33506de...
NM_007294.3:c.3762_3766del , LRG_292t1:c.3762_3766del	NP_009225.1:p.Lys1254AsnfsTer11
NM_007297.3:c.3621_3625del	NP_009228.2:p.Lys1207AsnfsTer11
NM_007298.3:c.788-737_788-733del	NP_009229.2:n.788-737_788-733del
NM_007299.3:c.788-737_788-733del	NP_009230.2:n.788-737_788-733del
NM_007300.3:c.3762_3766del	NP_009231.2:p.Lys1254AsnfsTer11
NR_027676.1:n.3898_3902del
NM_007294.4:c.3762_3766del MANE Select	NP_009225.1:p.Lys1254AsnfsTer11
NM_007297.4:c.3621_3625del	NP_009228.2:p.Lys1207AsnfsTer11
NM_007299.4:c.788-737_788-733del	NP_009230.2:n.788-737_788-733del
NM_007300.4:c.3762_3766del	NP_009231.2:p.Lys1254AsnfsTer11
NR_027676.2:n.3939_3943del