Canonical Allele Identifier: CA2260769991
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43064849_43064850delinsGA , CM000679.2:g.43064849_43064850delinsGA GRCh38
NC_000017.10:g.41216866_41216867delinsGA , CM000679.1:g.41216866_41216867delinsGA GRCh37
NC_000017.9:g.38470392_38470393delinsGA NCBI36
NG_005905.2:g.153134_153135delinsTC , LRG_292:g.153134_153135delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5072-899_5072-898delinsTC ENSP00000417241.2:n.5072-899_5072-898delinsTC
ENST00000470026.6:c.5075-899_5075-898delinsTC ENSP00000419274.2:n.5075-899_5075-898delinsTC
ENST00000473961.6:c.4949-899_4949-898delinsTC ENSP00000420201.2:n.4949-899_4949-898delinsTC
ENST00000476777.6:c.5069-899_5069-898delinsTC ENSP00000417554.2:n.5069-899_5069-898delinsTC
ENST00000477152.6:c.4997-899_4997-898delinsTC ENSP00000419988.2:n.4997-899_4997-898delinsTC
ENST00000478531.6:c.1763-899_1763-898delinsTC ENSP00000420412.2:n.1763-899_1763-898delinsTC
ENST00000489037.2:c.4997-899_4997-898delinsTC ENSP00000420781.2:n.4997-899_4997-898delinsTC
ENST00000493919.6:c.1625-899_1625-898delinsTC ENSP00000418819.2:n.1625-899_1625-898delinsTC
ENST00000494123.6:c.5075-899_5075-898delinsTC ENSP00000419103.2:n.5075-899_5075-898delinsTC
ENST00000497488.2:c.4187-899_4187-898delinsTC ENSP00000418986.2:n.4187-899_4187-898delinsTC
ENST00000618469.2:c.5075-899_5075-898delinsTC ENSP00000478114.2:n.5075-899_5075-898delinsTC
ENST00000634433.2:c.4952-899_4952-898delinsTC ENSP00000489431.2:n.4952-899_4952-898delinsTC
ENST00000644379.2:c.5141-899_5141-898delinsTC ENSP00000496570.2:n.5141-899_5141-898delinsTC
ENST00000644555.2:c.1625-899_1625-898delinsTC ENSP00000494614.2:n.1625-899_1625-898delinsTC
ENST00000652672.2:c.4934-899_4934-898delinsTC ENSP00000498906.2:n.4934-899_4934-898delinsTC
ENST00000484087.6:c.1637-899_1637-898delinsTC ENSP00000419481.2:n.1637-899_1637-898delinsTC
ENST00000357654.9:c.5075-899_5075-898delinsTC MANE Select ENSP00000350283.3:n.5075-899_5075-898delinsTC
ENST00000471181.7:c.5138-899_5138-898delinsTC ENSP00000418960.2:n.5138-899_5138-898delinsTC
ENST00000644379.1:c.1462-899_1462-898delinsTC
ENST00000352993.7:c.1649-899_1649-898delinsTC ENSP00000312236.5:n.1649-899_1649-898delinsTC
ENST00000357654.7:c.5075-899_5075-898delinsTC ENSP00000350283.3:n.5075-899_5075-898delinsTC
ENST00000461221.5:c.*4858-899_*4858-898delinsTC ENSP00000418548.1:n.*4858-899_*4858-898delinsTC
ENST00000468300.5:c.1763-899_1763-898delinsTC ENSP00000417148.1:n.1763-899_1763-898delinsTC
ENST00000471181.6:c.5138-899_5138-898delinsTC ENSP00000418960.2:n.5138-899_5138-898delinsTC
ENST00000478531.5:c.1763-899_1763-898delinsTC ENSP00000420412.1:n.1763-899_1763-898delinsTC
ENST00000484087.5:c.1388-899_1388-898delinsTC ENSP00000419481.1:n.1388-899_1388-898delinsTC
ENST00000491747.6:c.1763-899_1763-898delinsTC ENSP00000420705.2:n.1763-899_1763-898delinsTC
ENST00000493795.5:c.4934-899_4934-898delinsTC ENSP00000418775.1:n.4934-899_4934-898delinsTC
ENST00000493919.5:c.1625-899_1625-898delinsTC ENSP00000418819.1:n.1625-899_1625-898delinsTC
ENST00000586385.5:c.5-899_5-898delinsTC ENSP00000465818.1:n.5-899_5-898delinsTC
ENST00000591534.5:c.548-899_548-898delinsTC ENSP00000467329.1:n.548-899_548-898delinsTC
ENST00000591849.5:c.-98-14660_-98-14659delinsTC ENSP00000465347.1:n.-98-14660_-98-14659delinsTC
NM_007294.3:c.5075-899_5075-898delinsTC , LRG_292t1:c.5075-899_5075-898delinsTC NP_009225.1:n.5075-899_5075-898delinsTC
NM_007297.3:c.4934-899_4934-898delinsTC NP_009228.2:n.4934-899_4934-898delinsTC
NM_007298.3:c.1763-899_1763-898delinsTC NP_009229.2:n.1763-899_1763-898delinsTC
NM_007299.3:c.1763-899_1763-898delinsTC NP_009230.2:n.1763-899_1763-898delinsTC
NM_007300.3:c.5138-899_5138-898delinsTC NP_009231.2:n.5138-899_5138-898delinsTC
NR_027676.1:n.5211-899_5211-898delinsTC
NM_007294.4:c.5075-899_5075-898delinsTC MANE Select NP_009225.1:n.5075-899_5075-898delinsTC
NM_007297.4:c.4934-899_4934-898delinsTC NP_009228.2:n.4934-899_4934-898delinsTC
NM_007299.4:c.1763-899_1763-898delinsTC NP_009230.2:n.1763-899_1763-898delinsTC
NM_007300.4:c.5138-899_5138-898delinsTC NP_009231.2:n.5138-899_5138-898delinsTC
NR_027676.2:n.5252-899_5252-898delinsTC