Canonical Allele Identifier: CA2260765461

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43054990_43055034delinsTCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAG , CM000679.2:g.43054990_43055034delinsTCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAG	GRCh38
NC_000017.10:g.41207007_41207051delinsTCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAG , CM000679.1:g.41207007_41207051delinsTCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAG	GRCh37
NC_000017.9:g.38460533_38460577delinsTCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAG	NCBI36
NG_005905.2:g.162950_162994delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA , LRG_292:g.162950_162994delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5274+2018_5274+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000417241.2:n.5274+2018_5274+2062de...
ENST00000470026.6:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000419274.2:n.5277+2018_5277+2062de...
ENST00000473961.6:c.5151+2018_5151+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000420201.2:n.5151+2018_5151+2062de...
ENST00000476777.6:c.5271+2018_5271+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000417554.2:n.5271+2018_5271+2062de...
ENST00000477152.6:c.5199+2018_5199+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000419988.2:n.5199+2018_5199+2062de...
ENST00000478531.6:c.1965+2018_1965+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000420412.2:n.1965+2018_1965+2062de...
ENST00000489037.2:c.5199+2018_5199+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000420781.2:n.5199+2018_5199+2062de...
ENST00000493919.6:c.1827+2018_1827+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000418819.2:n.1827+2018_1827+2062de...
ENST00000494123.6:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000419103.2:n.5277+2018_5277+2062de...
ENST00000497488.2:c.4389+2018_4389+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000418986.2:n.4389+2018_4389+2062de...
ENST00000618469.2:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000478114.2:n.5277+2018_5277+2062de...
ENST00000634433.2:c.5154+2018_5154+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000489431.2:n.5154+2018_5154+2062de...
ENST00000644379.2:c.5343+2018_5343+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000496570.2:n.5343+2018_5343+2062de...
ENST00000644555.2:c.1827+2018_1827+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000494614.2:n.1827+2018_1827+2062de...
ENST00000652672.2:c.5136+2018_5136+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000498906.2:n.5136+2018_5136+2062de...
ENST00000484087.6:c.1839+2018_1839+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000419481.2:n.1839+2018_1839+2062de...
ENST00000357654.9:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA MANE Select	ENSP00000350283.3:n.5277+2018_5277+2062de...
ENST00000471181.7:c.5340+2018_5340+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000418960.2:n.5340+2018_5340+2062de...
ENST00000644379.1:c.1664+2018_1664+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA
ENST00000352993.7:c.1851+2018_1851+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000312236.5:n.1851+2018_1851+2062de...
ENST00000357654.7:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000350283.3:n.5277+2018_5277+2062de...
ENST00000461221.5:c.*5060+2018_*5060+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000418548.1:n.*5060+2018_*5060+2062...
ENST00000468300.5:c.1965+2018_1965+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000417148.1:n.1965+2018_1965+2062de...
ENST00000471181.6:c.5340+2018_5340+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000418960.2:n.5340+2018_5340+2062de...
ENST00000491747.6:c.1965+2018_1965+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000420705.2:n.1965+2018_1965+2062de...
ENST00000493795.5:c.5136+2018_5136+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000418775.1:n.5136+2018_5136+2062de...
ENST00000586385.5:c.207+2018_207+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000465818.1:n.207+2018_207+2062deli...
ENST00000591534.5:c.750+2018_750+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000467329.1:n.750+2018_750+2062deli...
ENST00000591849.5:c.-98-4844_-98-4800delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	ENSP00000465347.1:n.-98-4844_-98-4800deli...
NM_007294.3:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA , LRG_292t1:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009225.1:n.5277+2018_5277+2062delinsCT...
NM_007297.3:c.5136+2018_5136+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009228.2:n.5136+2018_5136+2062delinsCT...
NM_007298.3:c.1965+2018_1965+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009229.2:n.1965+2018_1965+2062delinsCT...
NM_007299.3:c.1965+2018_1965+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009230.2:n.1965+2018_1965+2062delinsCT...
NM_007300.3:c.5340+2018_5340+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009231.2:n.5340+2018_5340+2062delinsCT...
NR_027676.1:n.5413+2018_5413+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA
NM_007294.4:c.5277+2018_5277+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA MANE Select	NP_009225.1:n.5277+2018_5277+2062delinsCT...
NM_007297.4:c.5136+2018_5136+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009228.2:n.5136+2018_5136+2062delinsCT...
NM_007299.4:c.1965+2018_1965+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009230.2:n.1965+2018_1965+2062delinsCT...
NM_007300.4:c.5340+2018_5340+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA	NP_009231.2:n.5340+2018_5340+2062delinsCT...
NR_027676.2:n.5454+2018_5454+2062delinsCTCACACCTGTGATCCCAGCACTTTGGGAGCCCAAGGCGGGTGGA