Canonical Allele Identifier: CA063243

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091641_43091644del , CM000679.2:g.43091641_43091644del	GRCh38
NC_000017.10:g.41243658_41243661del , CM000679.1:g.41243658_41243661del	GRCh37
NC_000017.9:g.38497184_38497187del	NCBI36
NG_005905.2:g.126342_126345del , LRG_292:g.126342_126345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3953_3956del
ENST00000461574.2:c.3889_3892del	ENSP00000417241.2:p.Ser1297HisfsTer9
ENST00000470026.6:c.3889_3892del	ENSP00000419274.2:p.Ser1297HisfsTer9
ENST00000473961.6:c.3763_3766del	ENSP00000420201.2:p.Ser1255HisfsTer9
ENST00000476777.6:c.3886_3889del	ENSP00000417554.2:p.Ser1296HisfsTer9
ENST00000477152.6:c.3811_3814del	ENSP00000419988.2:p.Ser1271HisfsTer9
ENST00000478531.6:c.785-610_785-607del	ENSP00000420412.2:n.785-610_785-607del
ENST00000489037.2:c.3811_3814del	ENSP00000420781.2:p.Ser1271HisfsTer9
ENST00000493919.6:c.647-610_647-607del	ENSP00000418819.2:n.647-610_647-607del
ENST00000494123.6:c.3889_3892del	ENSP00000419103.2:p.Ser1297HisfsTer9
ENST00000497488.2:c.3001_3004del	ENSP00000418986.2:p.Ser1001HisfsTer9
ENST00000618469.2:c.3889_3892del	ENSP00000478114.2:p.Ser1297HisfsTer9
ENST00000634433.2:c.3766_3769del	ENSP00000489431.2:p.Ser1256HisfsTer9
ENST00000644379.2:c.3889_3892del	ENSP00000496570.2:p.Ser1297HisfsTer9
ENST00000644555.2:c.647-610_647-607del	ENSP00000494614.2:n.647-610_647-607del
ENST00000652672.2:c.3748_3751del	ENSP00000498906.2:p.Ser1250HisfsTer9
ENST00000484087.6:c.665-610_665-607del	ENSP00000419481.2:n.665-610_665-607del
ENST00000700182.1:c.707-610_707-607del	ENSP00000514849.1:n.707-610_707-607del
ENST00000357654.9:c.3889_3892del MANE Select	ENSP00000350283.3:p.Ser1297HisfsTer9
ENST00000471181.7:c.3889_3892del	ENSP00000418960.2:p.Ser1297HisfsTer9
ENST00000644379.1:c.210_213del
ENST00000352993.7:c.671-610_671-607del	ENSP00000312236.5:n.671-610_671-607del
ENST00000354071.7:c.3889_3892del	ENSP00000326002.7:p.Ser1297HisfsTer9
ENST00000357654.7:c.3889_3892del	ENSP00000350283.3:p.Ser1297HisfsTer9
ENST00000461221.5:c.*3672_*3675del	ENSP00000418548.1:n.*3672_*3675del
ENST00000461574.1:c.183_186del
ENST00000468300.5:c.788-610_788-607del	ENSP00000417148.1:n.788-610_788-607del
ENST00000471181.6:c.3889_3892del	ENSP00000418960.2:p.Ser1297HisfsTer9
ENST00000478531.5:c.785-610_785-607del	ENSP00000420412.1:n.785-610_785-607del
ENST00000484087.5:c.410-610_410-607del	ENSP00000419481.1:n.410-610_410-607del
ENST00000487825.5:c.413-610_413-607del	ENSP00000418212.1:n.413-610_413-607del
ENST00000491747.6:c.788-610_788-607del	ENSP00000420705.2:n.788-610_788-607del
ENST00000493795.5:c.3748_3751del	ENSP00000418775.1:p.Ser1250HisfsTer9
ENST00000493919.5:c.647-610_647-607del	ENSP00000418819.1:n.647-610_647-607del
ENST00000586385.5:c.5-27691_5-27688del	ENSP00000465818.1:n.5-27691_5-27688del
ENST00000591534.5:c.-43-17121_-43-17118del	ENSP00000467329.1:n.-43-17121_-43-17118del
ENST00000591849.5:c.-99+33629_-99+33632del	ENSP00000465347.1:n.-99+33629_-99+33632del
NM_007294.3:c.3889_3892del , LRG_292t1:c.3889_3892del	NP_009225.1:p.Ser1297HisfsTer9
NM_007297.3:c.3748_3751del	NP_009228.2:p.Ser1250HisfsTer9
NM_007298.3:c.788-610_788-607del	NP_009229.2:n.788-610_788-607del
NM_007299.3:c.788-610_788-607del	NP_009230.2:n.788-610_788-607del
NM_007300.3:c.3889_3892del	NP_009231.2:p.Ser1297HisfsTer9
NR_027676.1:n.4025_4028del
NM_007294.4:c.3889_3892del MANE Select	NP_009225.1:p.Ser1297HisfsTer9
NM_007297.4:c.3748_3751del	NP_009228.2:p.Ser1250HisfsTer9
NM_007299.4:c.788-610_788-607del	NP_009230.2:n.788-610_788-607del
NM_007300.4:c.3889_3892del	NP_009231.2:p.Ser1297HisfsTer9
NR_027676.2:n.4066_4069del