Canonical Allele Identifier: CA2260764557
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43052872C= , CM000679.2:g.43052872C= GRCh38
NC_000017.10:g.41204889C= , CM000679.1:g.41204889C= GRCh37
NC_000017.9:g.38458415C= NCBI36
NG_005905.2:g.165112G= , LRG_292:g.165112G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5275-1755G= ENSP00000417241.2:n.5275-1755G=
ENST00000470026.6:c.5278-1755G= ENSP00000419274.2:n.5278-1755G=
ENST00000473961.6:c.5152-1755G= ENSP00000420201.2:n.5152-1755G=
ENST00000476777.6:c.5272-1755G= ENSP00000417554.2:n.5272-1755G=
ENST00000477152.6:c.5200-1755G= ENSP00000419988.2:n.5200-1755G=
ENST00000478531.6:c.1966-1755G= ENSP00000420412.2:n.1966-1755G=
ENST00000489037.2:c.5200-1755G= ENSP00000420781.2:n.5200-1755G=
ENST00000493919.6:c.1828-1755G= ENSP00000418819.2:n.1828-1755G=
ENST00000494123.6:c.5278-1755G= ENSP00000419103.2:n.5278-1755G=
ENST00000497488.2:c.4390-1755G= ENSP00000418986.2:n.4390-1755G=
ENST00000618469.2:c.5278-1755G= ENSP00000478114.2:n.5278-1755G=
ENST00000634433.2:c.5155-1755G= ENSP00000489431.2:n.5155-1755G=
ENST00000644379.2:c.5344-1755G= ENSP00000496570.2:n.5344-1755G=
ENST00000644555.2:c.1828-1755G= ENSP00000494614.2:n.1828-1755G=
ENST00000652672.2:c.5137-1755G= ENSP00000498906.2:n.5137-1755G=
ENST00000484087.6:c.1840-1755G= ENSP00000419481.2:n.1840-1755G=
ENST00000357654.9:c.5278-1755G= MANE Select ENSP00000350283.3:n.5278-1755G=
ENST00000471181.7:c.5341-1755G= ENSP00000418960.2:n.5341-1755G=
ENST00000644379.1:c.1665-1755G=
ENST00000352993.7:c.1852-1755G= ENSP00000312236.5:n.1852-1755G=
ENST00000357654.7:c.5278-1755G= ENSP00000350283.3:n.5278-1755G=
ENST00000461221.5:c.*5061-1755G= ENSP00000418548.1:n.*5061-1755G=
ENST00000468300.5:c.1966-1755G= ENSP00000417148.1:n.1966-1755G=
ENST00000471181.6:c.5341-1755G= ENSP00000418960.2:n.5341-1755G=
ENST00000491747.6:c.1966-1755G= ENSP00000420705.2:n.1966-1755G=
ENST00000493795.5:c.5137-1755G= ENSP00000418775.1:n.5137-1755G=
ENST00000586385.5:c.208-1755G= ENSP00000465818.1:n.208-1755G=
ENST00000591534.5:c.751-1755G= ENSP00000467329.1:n.751-1755G=
ENST00000591849.5:c.-98-2682G= ENSP00000465347.1:n.-98-2682G=
NM_007294.3:c.5278-1755G= , LRG_292t1:c.5278-1755G= NP_009225.1:n.5278-1755G=
NM_007297.3:c.5137-1755G= NP_009228.2:n.5137-1755G=
NM_007298.3:c.1966-1755G= NP_009229.2:n.1966-1755G=
NM_007299.3:c.1966-1755G= NP_009230.2:n.1966-1755G=
NM_007300.3:c.5341-1755G= NP_009231.2:n.5341-1755G=
NR_027676.1:n.5414-1755G=
NM_007294.4:c.5278-1755G= MANE Select NP_009225.1:n.5278-1755G=
NM_007297.4:c.5137-1755G= NP_009228.2:n.5137-1755G=
NM_007299.4:c.1966-1755G= NP_009230.2:n.1966-1755G=
NM_007300.4:c.5341-1755G= NP_009231.2:n.5341-1755G=
NR_027676.2:n.5455-1755G=