Canonical Allele Identifier: CA2260762845
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049260C= , CM000679.2:g.43049260C= GRCh38
NC_000017.10:g.41201277C= , CM000679.1:g.41201277C= GRCh37
NC_000017.9:g.38454803C= NCBI36
NG_005905.2:g.168724G= , LRG_292:g.168724G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5330-66G= ENSP00000417241.2:n.5330-66G=
ENST00000470026.6:c.5333-66G= ENSP00000419274.2:n.5333-66G=
ENST00000473961.6:c.5207-66G= ENSP00000420201.2:n.5207-66G=
ENST00000476777.6:c.5327-66G= ENSP00000417554.2:n.5327-66G=
ENST00000477152.6:c.5255-66G= ENSP00000419988.2:n.5255-66G=
ENST00000478531.6:c.2021-66G= ENSP00000420412.2:n.2021-66G=
ENST00000489037.2:c.5255-66G= ENSP00000420781.2:n.5255-66G=
ENST00000493919.6:c.1883-66G= ENSP00000418819.2:n.1883-66G=
ENST00000494123.6:c.5333-66G= ENSP00000419103.2:n.5333-66G=
ENST00000497488.2:c.4445-66G= ENSP00000418986.2:n.4445-66G=
ENST00000618469.2:c.5333-66G= ENSP00000478114.2:n.5333-66G=
ENST00000634433.2:c.5210-66G= ENSP00000489431.2:n.5210-66G=
ENST00000644379.2:c.5399-66G= ENSP00000496570.2:n.5399-66G=
ENST00000644555.2:c.1883-66G= ENSP00000494614.2:n.1883-66G=
ENST00000652672.2:c.5192-66G= ENSP00000498906.2:n.5192-66G=
ENST00000484087.6:c.1895-66G= ENSP00000419481.2:n.1895-66G=
ENST00000700081.1:n.1150G=
ENST00000357654.9:c.5333-66G= MANE Select ENSP00000350283.3:n.5333-66G=
ENST00000471181.7:c.5396-66G= ENSP00000418960.2:n.5396-66G=
ENST00000644379.1:c.1720-66G=
ENST00000352993.7:c.1907-66G= ENSP00000312236.5:n.1907-66G=
ENST00000357654.7:c.5333-66G= ENSP00000350283.3:n.5333-66G=
ENST00000461221.5:c.*5116-66G= ENSP00000418548.1:n.*5116-66G=
ENST00000468300.5:c.2021-1557G= ENSP00000417148.1:n.2021-1557G=
ENST00000471181.6:c.5396-66G= ENSP00000418960.2:n.5396-66G=
ENST00000491747.6:c.2021-66G= ENSP00000420705.2:n.2021-66G=
ENST00000493795.5:c.5192-66G= ENSP00000418775.1:n.5192-66G=
ENST00000586385.5:c.263-66G= ENSP00000465818.1:n.263-66G=
ENST00000591534.5:c.806-66G= ENSP00000467329.1:n.806-66G=
ENST00000591849.5:c.32-66G= ENSP00000465347.1:n.32-66G=
NM_007294.3:c.5333-66G= , LRG_292t1:c.5333-66G= NP_009225.1:n.5333-66G=
NM_007297.3:c.5192-66G= NP_009228.2:n.5192-66G=
NM_007298.3:c.2021-66G= NP_009229.2:n.2021-66G=
NM_007299.3:c.2021-1557G= NP_009230.2:n.2021-1557G=
NM_007300.3:c.5396-66G= NP_009231.2:n.5396-66G=
NR_027676.1:n.5469-66G=
NM_007294.4:c.5333-66G= MANE Select NP_009225.1:n.5333-66G=
NM_007297.4:c.5192-66G= NP_009228.2:n.5192-66G=
NM_007299.4:c.2021-1557G= NP_009230.2:n.2021-1557G=
NM_007300.4:c.5396-66G= NP_009231.2:n.5396-66G=
NR_027676.2:n.5510-66G=