Canonical Allele Identifier: CA2260781899
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091420A= , CM000679.2:g.43091420A= GRCh38
NC_000017.10:g.41243437A= , CM000679.1:g.41243437A= GRCh37
NC_000017.9:g.38496963A= NCBI36
NG_005905.2:g.126564T= , LRG_292:g.126564T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4175T=
ENST00000461574.2:c.4096+15T= ENSP00000417241.2:n.4096+15T=
ENST00000470026.6:c.4096+15T= ENSP00000419274.2:n.4096+15T=
ENST00000473961.6:c.3970+15T= ENSP00000420201.2:n.3970+15T=
ENST00000476777.6:c.4093+15T= ENSP00000417554.2:n.4093+15T=
ENST00000477152.6:c.4018+15T= ENSP00000419988.2:n.4018+15T=
ENST00000478531.6:c.785-388T= ENSP00000420412.2:n.785-388T=
ENST00000489037.2:c.4018+15T= ENSP00000420781.2:n.4018+15T=
ENST00000493919.6:c.647-388T= ENSP00000418819.2:n.647-388T=
ENST00000494123.6:c.4096+15T= ENSP00000419103.2:n.4096+15T=
ENST00000497488.2:c.3208+15T= ENSP00000418986.2:n.3208+15T=
ENST00000618469.2:c.4096+15T= ENSP00000478114.2:n.4096+15T=
ENST00000634433.2:c.3973+15T= ENSP00000489431.2:n.3973+15T=
ENST00000644379.2:c.4096+15T= ENSP00000496570.2:n.4096+15T=
ENST00000644555.2:c.647-388T= ENSP00000494614.2:n.647-388T=
ENST00000652672.2:c.3955+15T= ENSP00000498906.2:n.3955+15T=
ENST00000484087.6:c.665-388T= ENSP00000419481.2:n.665-388T=
ENST00000700182.1:c.707-388T= ENSP00000514849.1:n.707-388T=
ENST00000357654.9:c.4096+15T= MANE Select ENSP00000350283.3:n.4096+15T=
ENST00000471181.7:c.4096+15T= ENSP00000418960.2:n.4096+15T=
ENST00000644379.1:c.417+15T=
ENST00000352993.7:c.671-388T= ENSP00000312236.5:n.671-388T=
ENST00000354071.7:c.4111T= ENSP00000326002.7:p.Phe1371=
ENST00000357654.7:c.4096+15T= ENSP00000350283.3:n.4096+15T=
ENST00000461221.5:c.*3879+15T= ENSP00000418548.1:n.*3879+15T=
ENST00000461574.1:c.390+15T=
ENST00000468300.5:c.788-388T= ENSP00000417148.1:n.788-388T=
ENST00000471181.6:c.4096+15T= ENSP00000418960.2:n.4096+15T=
ENST00000478531.5:c.785-388T= ENSP00000420412.1:n.785-388T=
ENST00000484087.5:c.410-388T= ENSP00000419481.1:n.410-388T=
ENST00000487825.5:c.413-388T= ENSP00000418212.1:n.413-388T=
ENST00000491747.6:c.788-388T= ENSP00000420705.2:n.788-388T=
ENST00000493795.5:c.3955+15T= ENSP00000418775.1:n.3955+15T=
ENST00000493919.5:c.647-388T= ENSP00000418819.1:n.647-388T=
ENST00000586385.5:c.5-27469T= ENSP00000465818.1:n.5-27469T=
ENST00000591534.5:c.-43-16899T= ENSP00000467329.1:n.-43-16899T=
ENST00000591849.5:c.-99+33851T= ENSP00000465347.1:n.-99+33851T=
NM_007294.3:c.4096+15T= , LRG_292t1:c.4096+15T= NP_009225.1:n.4096+15T=
NM_007297.3:c.3955+15T= NP_009228.2:n.3955+15T=
NM_007298.3:c.788-388T= NP_009229.2:n.788-388T=
NM_007299.3:c.788-388T= NP_009230.2:n.788-388T=
NM_007300.3:c.4096+15T= NP_009231.2:n.4096+15T=
NR_027676.1:n.4232+15T=
NM_007294.4:c.4096+15T= MANE Select NP_009225.1:n.4096+15T=
NM_007297.4:c.3955+15T= NP_009228.2:n.3955+15T=
NM_007299.4:c.788-388T= NP_009230.2:n.788-388T=
NM_007300.4:c.4096+15T= NP_009231.2:n.4096+15T=
NR_027676.2:n.4273+15T=