Canonical Allele Identifier: CA002977
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071231_43071232del , CM000679.2:g.43071231_43071232del GRCh38
NC_000017.10:g.41223248_41223249del , CM000679.1:g.41223248_41223249del GRCh37
NC_000017.9:g.38476774_38476775del NCBI36
NG_005905.2:g.146754_146755del , LRG_292:g.146754_146755del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.4684_4685del MANE Select NP_009225.1:p.Pro1562LeufsTer11
ENST00000357654.9:c.4684_4685del MANE Select ENSP00000350283.3:p.Pro1562LeufsTer11
NM_007294.3:c.4684_4685del , LRG_292t1:c.4684_4685del NP_009225.1:p.Pro1562LeufsTer11
NM_007297.3:c.4543_4544del NP_009228.2:p.Pro1515LeufsTer11
NM_007297.4:c.4543_4544del NP_009228.2:p.Pro1515LeufsTer11
NM_007298.3:c.1372_1373del NP_009229.2:p.Pro458LeufsTer11
NM_007299.3:c.1372_1373del NP_009230.2:p.Pro458LeufsTer11
NM_007299.4:c.1372_1373del NP_009230.2:p.Pro458LeufsTer11
NM_007300.3:c.4747_4748del NP_009231.2:p.Pro1583LeufsTer11
NM_007300.4:c.4747_4748del NP_009231.2:p.Pro1583LeufsTer11
NR_027676.1:n.4820_4821del
NR_027676.2:n.4861_4862del
ENST00000352993.7:c.1258_1259del ENSP00000312236.5:p.Pro420LeufsTer11
ENST00000357654.7:c.4684_4685del ENSP00000350283.3:p.Pro1562LeufsTer11
ENST00000461221.5:c.*4467_*4468del ENSP00000418548.1:n.*4467_*4468del
ENST00000461574.2:c.4681_4682del ENSP00000417241.2:p.Pro1561LeufsTer11
ENST00000468300.5:c.1372_1373del ENSP00000417148.1:p.Pro458LeufsTer11
ENST00000470026.6:c.4684_4685del ENSP00000419274.2:p.Pro1562LeufsTer11
ENST00000471181.6:c.4747_4748del ENSP00000418960.2:p.Pro1583LeufsTer11
ENST00000471181.7:c.4747_4748del ENSP00000418960.2:p.Pro1583LeufsTer11
ENST00000473961.6:c.4558_4559del ENSP00000420201.2:p.Pro1520LeufsTer11
ENST00000476777.6:c.4678_4679del ENSP00000417554.2:p.Pro1560LeufsTer11
ENST00000477152.6:c.4606_4607del ENSP00000419988.2:p.Pro1536LeufsTer11
ENST00000478531.5:c.1372_1373del ENSP00000420412.1:p.Pro458LeufsTer11
ENST00000478531.6:c.1372_1373del ENSP00000420412.2:p.Pro458LeufsTer11
ENST00000484087.5:c.997_998del ENSP00000419481.1:p.Pro333LeufsTer11
ENST00000484087.6:c.1246_1247del ENSP00000419481.2:p.Pro416LeufsTer11
ENST00000489037.2:c.4606_4607del ENSP00000420781.2:p.Pro1536LeufsTer11
ENST00000491747.6:c.1372_1373del ENSP00000420705.2:p.Pro458LeufsTer11
ENST00000493795.5:c.4543_4544del ENSP00000418775.1:p.Pro1515LeufsTer11
ENST00000493919.5:c.1234_1235del ENSP00000418819.1:p.Pro412LeufsTer11
ENST00000493919.6:c.1234_1235del ENSP00000418819.2:p.Pro412LeufsTer11
ENST00000494123.6:c.4684_4685del ENSP00000419103.2:p.Pro1562LeufsTer11
ENST00000497488.2:c.3796_3797del ENSP00000418986.2:p.Pro1266LeufsTer11
ENST00000586385.5:c.5-7279_5-7278del ENSP00000465818.1:n.5-7279_5-7278del
ENST00000591534.5:c.157_158del ENSP00000467329.1:p.Pro53LeufsTer11
ENST00000591849.5:c.-98-21040_-98-21039del ENSP00000465347.1:n.-98-21040_-98-21039del
ENST00000618469.2:c.4684_4685del ENSP00000478114.2:p.Pro1562LeufsTer11
ENST00000634433.2:c.4561_4562del ENSP00000489431.2:p.Pro1521LeufsTer11
ENST00000644379.1:c.1071_1072del
ENST00000644379.2:c.4750_4751del ENSP00000496570.2:p.Pro1584LeufsTer11
ENST00000644555.2:c.1234_1235del ENSP00000494614.2:p.Pro412LeufsTer11
ENST00000652672.2:c.4543_4544del ENSP00000498906.2:p.Pro1515LeufsTer11
ENST00000700182.1:c.1291_1292del ENSP00000514849.1:p.Pro431LeufsTer11