Canonical Allele Identifier: CA2260763768
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2051217247

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43051130_43051131insTCTTGTGACAACAGGACAAGAAATTGAAGA , CM000679.2:g.43051130_43051131insTCTTGTGACAACAGGACAAGAAATTGAAGA GRCh38
NC_000017.10:g.41203147_41203148insTCTTGTGACAACAGGACAAGAAATTGAAGA , CM000679.1:g.41203147_41203148insTCTTGTGACAACAGGACAAGAAATTGAAGA GRCh37
NC_000017.9:g.38456673_38456674insTCTTGTGACAACAGGACAAGAAATTGAAGA NCBI36
NG_005905.2:g.166856_166857insTCAATTTCTTGTCCTGTTGTCACAAGATCT , LRG_292:g.166856_166857insTCAATTTCTTGTCCTGTTGTCACAAGATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5275-11_5275-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000417241.2:n.5275-11_5275-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000470026.6:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000419274.2:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000473961.6:c.5152-11_5152-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000420201.2:n.5152-11_5152-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000476777.6:c.5272-11_5272-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000417554.2:n.5272-11_5272-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000477152.6:c.5200-11_5200-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000419988.2:n.5200-11_5200-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000478531.6:c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000420412.2:n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000489037.2:c.5200-11_5200-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000420781.2:n.5200-11_5200-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000493919.6:c.1828-11_1828-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000418819.2:n.1828-11_1828-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000494123.6:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000419103.2:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000497488.2:c.4390-11_4390-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000418986.2:n.4390-11_4390-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000618469.2:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000478114.2:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000634433.2:c.5155-11_5155-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000489431.2:n.5155-11_5155-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000644379.2:c.5344-11_5344-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000496570.2:n.5344-11_5344-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000644555.2:c.1828-11_1828-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000494614.2:n.1828-11_1828-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000652672.2:c.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000498906.2:n.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000484087.6:c.1840-11_1840-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000419481.2:n.1840-11_1840-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000357654.9:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT MANE Select ENSP00000350283.3:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000471181.7:c.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000418960.2:n.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000644379.1:c.1665-11_1665-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT
ENST00000352993.7:c.1852-11_1852-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000312236.5:n.1852-11_1852-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000357654.7:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000350283.3:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000461221.5:c.*5061-11_*5061-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000418548.1:n.*5061-11_*5061-10insTCAATTTCTTGTCCTGTTGTC...
ENST00000468300.5:c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000417148.1:n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000471181.6:c.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000418960.2:n.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000491747.6:c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000420705.2:n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000493795.5:c.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000418775.1:n.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCAC...
ENST00000586385.5:c.208-11_208-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000465818.1:n.208-11_208-10insTCAATTTCTTGTCCTGTTGTCACAA...
ENST00000591534.5:c.751-11_751-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000467329.1:n.751-11_751-10insTCAATTTCTTGTCCTGTTGTCACAA...
ENST00000591849.5:c.-98-938_-98-937insTCAATTTCTTGTCCTGTTGTCACAAGATCT ENSP00000465347.1:n.-98-938_-98-937insTCAATTTCTTGTCCTGTTGTCAC...
NM_007294.3:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT , LRG_292t1:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009225.1:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007297.3:c.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009228.2:n.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007298.3:c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009229.2:n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007299.3:c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009230.2:n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007300.3:c.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009231.2:n.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NR_027676.1:n.5414-11_5414-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT
NM_007294.4:c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT MANE Select NP_009225.1:n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007297.4:c.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009228.2:n.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007299.4:c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009230.2:n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NM_007300.4:c.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT NP_009231.2:n.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATC...
NR_027676.2:n.5455-11_5455-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT