Canonical Allele Identifier: CA2695225942
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091446_43091447del , CM000679.2:g.43091446_43091447del GRCh38
NC_000017.10:g.41243463_41243464del , CM000679.1:g.41243463_41243464del GRCh37
NC_000017.9:g.38496989_38496990del NCBI36
NG_005905.2:g.126537_126538del , LRG_292:g.126537_126538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4148_4149del
ENST00000461574.2:c.4084_4085del ENSP00000417241.2:p.Asp1362PhefsTer5
ENST00000470026.6:c.4084_4085del ENSP00000419274.2:p.Asp1362PhefsTer5
ENST00000473961.6:c.3958_3959del ENSP00000420201.2:p.Asp1320PhefsTer5
ENST00000476777.6:c.4081_4082del ENSP00000417554.2:p.Asp1361PhefsTer5
ENST00000477152.6:c.4006_4007del ENSP00000419988.2:p.Asp1336PhefsTer5
ENST00000478531.6:c.785-415_785-414del ENSP00000420412.2:n.785-415_785-414del
ENST00000489037.2:c.4006_4007del ENSP00000420781.2:p.Asp1336PhefsTer5
ENST00000493919.6:c.647-415_647-414del ENSP00000418819.2:n.647-415_647-414del
ENST00000494123.6:c.4084_4085del ENSP00000419103.2:p.Asp1362PhefsTer5
ENST00000497488.2:c.3196_3197del ENSP00000418986.2:p.Asp1066PhefsTer5
ENST00000618469.2:c.4084_4085del ENSP00000478114.2:p.Asp1362PhefsTer5
ENST00000634433.2:c.3961_3962del ENSP00000489431.2:p.Asp1321PhefsTer5
ENST00000644379.2:c.4084_4085del ENSP00000496570.2:p.Asp1362PhefsTer5
ENST00000644555.2:c.647-415_647-414del ENSP00000494614.2:n.647-415_647-414del
ENST00000652672.2:c.3943_3944del ENSP00000498906.2:p.Asp1315PhefsTer5
ENST00000484087.6:c.665-415_665-414del ENSP00000419481.2:n.665-415_665-414del
ENST00000700182.1:c.707-415_707-414del ENSP00000514849.1:n.707-415_707-414del
ENST00000357654.9:c.4084_4085del MANE Select ENSP00000350283.3:p.Asp1362PhefsTer5
ENST00000471181.7:c.4084_4085del ENSP00000418960.2:p.Asp1362PhefsTer5
ENST00000644379.1:c.405_406del
ENST00000352993.7:c.671-415_671-414del ENSP00000312236.5:n.671-415_671-414del
ENST00000354071.7:c.4084_4085del ENSP00000326002.7:p.Asp1362PhefsTer18
ENST00000357654.7:c.4084_4085del ENSP00000350283.3:p.Asp1362PhefsTer5
ENST00000461221.5:c.*3867_*3868del ENSP00000418548.1:n.*3867_*3868del
ENST00000461574.1:c.378_379del
ENST00000468300.5:c.788-415_788-414del ENSP00000417148.1:n.788-415_788-414del
ENST00000471181.6:c.4084_4085del ENSP00000418960.2:p.Asp1362PhefsTer5
ENST00000478531.5:c.785-415_785-414del ENSP00000420412.1:n.785-415_785-414del
ENST00000484087.5:c.410-415_410-414del ENSP00000419481.1:n.410-415_410-414del
ENST00000487825.5:c.413-415_413-414del ENSP00000418212.1:n.413-415_413-414del
ENST00000491747.6:c.788-415_788-414del ENSP00000420705.2:n.788-415_788-414del
ENST00000493795.5:c.3943_3944del ENSP00000418775.1:p.Asp1315PhefsTer5
ENST00000493919.5:c.647-415_647-414del ENSP00000418819.1:n.647-415_647-414del
ENST00000586385.5:c.5-27496_5-27495del ENSP00000465818.1:n.5-27496_5-27495del
ENST00000591534.5:c.-43-16926_-43-16925del ENSP00000467329.1:n.-43-16926_-43-16925del
ENST00000591849.5:c.-99+33824_-99+33825del ENSP00000465347.1:n.-99+33824_-99+33825del
NM_007294.3:c.4084_4085del , LRG_292t1:c.4084_4085del NP_009225.1:p.Asp1362PhefsTer5
NM_007297.3:c.3943_3944del NP_009228.2:p.Asp1315PhefsTer5
NM_007298.3:c.788-415_788-414del NP_009229.2:n.788-415_788-414del
NM_007299.3:c.788-415_788-414del NP_009230.2:n.788-415_788-414del
NM_007300.3:c.4084_4085del NP_009231.2:p.Asp1362PhefsTer5
NR_027676.1:n.4220_4221del
NM_007294.4:c.4084_4085del MANE Select NP_009225.1:p.Asp1362PhefsTer5
NM_007297.4:c.3943_3944del NP_009228.2:p.Asp1315PhefsTer5
NM_007299.4:c.788-415_788-414del NP_009230.2:n.788-415_788-414del
NM_007300.4:c.4084_4085del NP_009231.2:p.Asp1362PhefsTer5
NR_027676.2:n.4261_4262del