Canonical Allele Identifier: CA2260761930
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047601C= , CM000679.2:g.43047601C= GRCh38
NC_000017.10:g.41199618C= , CM000679.1:g.41199618C= GRCh37
NC_000017.9:g.38453144C= NCBI36
NG_005905.2:g.170383G= , LRG_292:g.170383G=

Transcript Alleles

HGVS Amino-acid change
ENST00000357654.9:c.5467+42G= MANE Select ENSP00000350283.3:p.=
ENST00000471181.7:c.5530+42G= ENSP00000418960.2:p.=
ENST00000644379.1:n.1854+42G=
ENST00000352993.7:c.2041+42G= ENSP00000312236.5:p.=
ENST00000357654.7:c.5467+42G= ENSP00000350283.3:p.=
ENST00000461221.5:c.*5250+42G= ENSP00000418548.1:p.=
ENST00000468300.5:c.2081+42G= ENSP00000417148.1:p.=
ENST00000471181.6:c.5530+42G= ENSP00000418960.2:p.=
ENST00000491747.6:c.2155+42G= ENSP00000420705.2:p.=
ENST00000493795.5:c.5326+42G= ENSP00000418775.1:p.=
ENST00000586385.5:c.397+42G= ENSP00000465818.1:p.=
ENST00000591534.5:c.940+42G= ENSP00000467329.1:p.=
ENST00000591849.5:c.166+42G= ENSP00000465347.1:p.=
NM_007294.3:c.5467+42G= , LRG_292t1:c.5467+42G= NP_009225.1:p.=
NM_007297.3:c.5326+42G= NP_009228.2:p.=
NM_007298.3:c.2155+42G= NP_009229.2:p.=
NM_007299.3:c.2081+42G= NP_009230.2:p.=
NM_007300.3:c.5530+42G= NP_009231.2:p.=
NR_027676.1:n.5603+42G=
NM_007294.4:c.5467+42G= MANE Select NP_009225.1:p.=
NM_007297.4:c.5326+42G= NP_009228.2:p.=
NM_007299.4:c.2081+42G= NP_009230.2:p.=
NM_007300.4:c.5530+42G= NP_009231.2:p.=
NR_027676.2:n.5644+42G=