Canonical Allele Identifier: CA2260769655
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43064096_43064097delinsAG , CM000679.2:g.43064096_43064097delinsAG GRCh38
NC_000017.10:g.41216113_41216114delinsAG , CM000679.1:g.41216113_41216114delinsAG GRCh37
NC_000017.9:g.38469639_38469640delinsAG NCBI36
NG_005905.2:g.153887_153888delinsCT , LRG_292:g.153887_153888delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5072-146_5072-145delinsCT ENSP00000417241.2:n.5072-146_5072-145delinsCT
ENST00000470026.6:c.5075-146_5075-145delinsCT ENSP00000419274.2:n.5075-146_5075-145delinsCT
ENST00000473961.6:c.4949-146_4949-145delinsCT ENSP00000420201.2:n.4949-146_4949-145delinsCT
ENST00000476777.6:c.5069-146_5069-145delinsCT ENSP00000417554.2:n.5069-146_5069-145delinsCT
ENST00000477152.6:c.4997-146_4997-145delinsCT ENSP00000419988.2:n.4997-146_4997-145delinsCT
ENST00000478531.6:c.1763-146_1763-145delinsCT ENSP00000420412.2:n.1763-146_1763-145delinsCT
ENST00000489037.2:c.4997-146_4997-145delinsCT ENSP00000420781.2:n.4997-146_4997-145delinsCT
ENST00000493919.6:c.1625-146_1625-145delinsCT ENSP00000418819.2:n.1625-146_1625-145delinsCT
ENST00000494123.6:c.5075-146_5075-145delinsCT ENSP00000419103.2:n.5075-146_5075-145delinsCT
ENST00000497488.2:c.4187-146_4187-145delinsCT ENSP00000418986.2:n.4187-146_4187-145delinsCT
ENST00000618469.2:c.5075-146_5075-145delinsCT ENSP00000478114.2:n.5075-146_5075-145delinsCT
ENST00000634433.2:c.4952-146_4952-145delinsCT ENSP00000489431.2:n.4952-146_4952-145delinsCT
ENST00000644379.2:c.5141-146_5141-145delinsCT ENSP00000496570.2:n.5141-146_5141-145delinsCT
ENST00000644555.2:c.1625-146_1625-145delinsCT ENSP00000494614.2:n.1625-146_1625-145delinsCT
ENST00000652672.2:c.4934-146_4934-145delinsCT ENSP00000498906.2:n.4934-146_4934-145delinsCT
ENST00000484087.6:c.1637-146_1637-145delinsCT ENSP00000419481.2:n.1637-146_1637-145delinsCT
ENST00000357654.9:c.5075-146_5075-145delinsCT MANE Select ENSP00000350283.3:n.5075-146_5075-145delinsCT
ENST00000471181.7:c.5138-146_5138-145delinsCT ENSP00000418960.2:n.5138-146_5138-145delinsCT
ENST00000644379.1:c.1462-146_1462-145delinsCT
ENST00000352993.7:c.1649-146_1649-145delinsCT ENSP00000312236.5:n.1649-146_1649-145delinsCT
ENST00000357654.7:c.5075-146_5075-145delinsCT ENSP00000350283.3:n.5075-146_5075-145delinsCT
ENST00000461221.5:c.*4858-146_*4858-145delinsCT ENSP00000418548.1:n.*4858-146_*4858-145delinsCT
ENST00000468300.5:c.1763-146_1763-145delinsCT ENSP00000417148.1:n.1763-146_1763-145delinsCT
ENST00000471181.6:c.5138-146_5138-145delinsCT ENSP00000418960.2:n.5138-146_5138-145delinsCT
ENST00000478531.5:c.1763-146_1763-145delinsCT ENSP00000420412.1:n.1763-146_1763-145delinsCT
ENST00000484087.5:c.1388-146_1388-145delinsCT ENSP00000419481.1:n.1388-146_1388-145delinsCT
ENST00000491747.6:c.1763-146_1763-145delinsCT ENSP00000420705.2:n.1763-146_1763-145delinsCT
ENST00000493795.5:c.4934-146_4934-145delinsCT ENSP00000418775.1:n.4934-146_4934-145delinsCT
ENST00000493919.5:c.1625-146_1625-145delinsCT ENSP00000418819.1:n.1625-146_1625-145delinsCT
ENST00000586385.5:c.5-146_5-145delinsCT ENSP00000465818.1:n.5-146_5-145delinsCT
ENST00000591534.5:c.548-146_548-145delinsCT ENSP00000467329.1:n.548-146_548-145delinsCT
ENST00000591849.5:c.-98-13907_-98-13906delinsCT ENSP00000465347.1:n.-98-13907_-98-13906delinsCT
NM_007294.3:c.5075-146_5075-145delinsCT , LRG_292t1:c.5075-146_5075-145delinsCT NP_009225.1:n.5075-146_5075-145delinsCT
NM_007297.3:c.4934-146_4934-145delinsCT NP_009228.2:n.4934-146_4934-145delinsCT
NM_007298.3:c.1763-146_1763-145delinsCT NP_009229.2:n.1763-146_1763-145delinsCT
NM_007299.3:c.1763-146_1763-145delinsCT NP_009230.2:n.1763-146_1763-145delinsCT
NM_007300.3:c.5138-146_5138-145delinsCT NP_009231.2:n.5138-146_5138-145delinsCT
NR_027676.1:n.5211-146_5211-145delinsCT
NM_007294.4:c.5075-146_5075-145delinsCT MANE Select NP_009225.1:n.5075-146_5075-145delinsCT
NM_007297.4:c.4934-146_4934-145delinsCT NP_009228.2:n.4934-146_4934-145delinsCT
NM_007299.4:c.1763-146_1763-145delinsCT NP_009230.2:n.1763-146_1763-145delinsCT
NM_007300.4:c.5138-146_5138-145delinsCT NP_009231.2:n.5138-146_5138-145delinsCT
NR_027676.2:n.5252-146_5252-145delinsCT