Canonical Allele Identifier: CA2260766497
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057155A= , CM000679.2:g.43057155A= GRCh38
NC_000017.10:g.41209172A= , CM000679.1:g.41209172A= GRCh37
NC_000017.9:g.38462698A= NCBI36
NG_005905.2:g.160829T= , LRG_292:g.160829T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5191-20T= ENSP00000417241.2:n.5191-20T=
ENST00000470026.6:c.5194-20T= ENSP00000419274.2:n.5194-20T=
ENST00000473961.6:c.5068-20T= ENSP00000420201.2:n.5068-20T=
ENST00000476777.6:c.5188-20T= ENSP00000417554.2:n.5188-20T=
ENST00000477152.6:c.5116-20T= ENSP00000419988.2:n.5116-20T=
ENST00000478531.6:c.1882-20T= ENSP00000420412.2:n.1882-20T=
ENST00000489037.2:c.5116-20T= ENSP00000420781.2:n.5116-20T=
ENST00000493919.6:c.1744-20T= ENSP00000418819.2:n.1744-20T=
ENST00000494123.6:c.5194-20T= ENSP00000419103.2:n.5194-20T=
ENST00000497488.2:c.4306-20T= ENSP00000418986.2:n.4306-20T=
ENST00000618469.2:c.5194-20T= ENSP00000478114.2:n.5194-20T=
ENST00000634433.2:c.5071-20T= ENSP00000489431.2:n.5071-20T=
ENST00000644379.2:c.5260-20T= ENSP00000496570.2:n.5260-20T=
ENST00000644555.2:c.1744-20T= ENSP00000494614.2:n.1744-20T=
ENST00000652672.2:c.5053-20T= ENSP00000498906.2:n.5053-20T=
ENST00000484087.6:c.1756-20T= ENSP00000419481.2:n.1756-20T=
ENST00000357654.9:c.5194-20T= MANE Select ENSP00000350283.3:n.5194-20T=
ENST00000471181.7:c.5257-20T= ENSP00000418960.2:n.5257-20T=
ENST00000644379.1:c.1581-20T=
ENST00000352993.7:c.1768-20T= ENSP00000312236.5:n.1768-20T=
ENST00000357654.7:c.5194-20T= ENSP00000350283.3:n.5194-20T=
ENST00000461221.5:c.*4977-20T= ENSP00000418548.1:n.*4977-20T=
ENST00000468300.5:c.1882-20T= ENSP00000417148.1:n.1882-20T=
ENST00000471181.6:c.5257-20T= ENSP00000418960.2:n.5257-20T=
ENST00000491747.6:c.1882-20T= ENSP00000420705.2:n.1882-20T=
ENST00000493795.5:c.5053-20T= ENSP00000418775.1:n.5053-20T=
ENST00000586385.5:c.124-20T= ENSP00000465818.1:n.124-20T=
ENST00000591534.5:c.667-20T= ENSP00000467329.1:n.667-20T=
ENST00000591849.5:c.-98-6965T= ENSP00000465347.1:n.-98-6965T=
NM_007294.3:c.5194-20T= , LRG_292t1:c.5194-20T= NP_009225.1:n.5194-20T=
NM_007297.3:c.5053-20T= NP_009228.2:n.5053-20T=
NM_007298.3:c.1882-20T= NP_009229.2:n.1882-20T=
NM_007299.3:c.1882-20T= NP_009230.2:n.1882-20T=
NM_007300.3:c.5257-20T= NP_009231.2:n.5257-20T=
NR_027676.1:n.5330-20T=
NM_007294.4:c.5194-20T= MANE Select NP_009225.1:n.5194-20T=
NM_007297.4:c.5053-20T= NP_009228.2:n.5053-20T=
NM_007299.4:c.1882-20T= NP_009230.2:n.1882-20T=
NM_007300.4:c.5257-20T= NP_009231.2:n.5257-20T=
NR_027676.2:n.5371-20T=