Canonical Allele Identifier: CA983876032
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066834_43066835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.43066834_43066835insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000017.10:g.41218851_41218852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.41218851_41218852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000017.9:g.38472377_38472378insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_005905.2:g.151171_151172insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_292:g.151171_151172insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+795_5071+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000417241.2:n.5071+795_5071+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000470026.6:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000419274.2:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000473961.6:c.4948+795_4948+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000420201.2:n.4948+795_4948+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000476777.6:c.5068+795_5068+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000417554.2:n.5068+795_5068+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000477152.6:c.4996+795_4996+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000419988.2:n.4996+795_4996+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000478531.6:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000420412.2:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000489037.2:c.4996+795_4996+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000420781.2:n.4996+795_4996+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000493919.6:c.1624+795_1624+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418819.2:n.1624+795_1624+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000494123.6:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000419103.2:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000497488.2:c.4186+795_4186+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418986.2:n.4186+795_4186+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000618469.2:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000478114.2:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000634433.2:c.4951+795_4951+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000489431.2:n.4951+795_4951+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000644379.2:c.5140+795_5140+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000496570.2:n.5140+795_5140+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000644555.2:c.1624+795_1624+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000494614.2:n.1624+795_1624+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000652672.2:c.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000498906.2:n.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000484087.6:c.1636+795_1636+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000419481.2:n.1636+795_1636+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000357654.9:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select ENSP00000350283.3:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000471181.7:c.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418960.2:n.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000644379.1:c.1461+795_1461+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000352993.7:c.1648+795_1648+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000312236.5:n.1648+795_1648+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000357654.7:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000350283.3:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000461221.5:c.*4857+795_*4857+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418548.1:n.*4857+795_*4857+796insAAAAAAAAAAAAAAAAAAA...
ENST00000468300.5:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000417148.1:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000471181.6:c.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418960.2:n.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000478531.5:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000420412.1:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000484087.5:c.1387+795_1387+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000419481.1:n.1387+795_1387+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000491747.6:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000420705.2:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000493795.5:c.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418775.1:n.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000493919.5:c.1624+795_1624+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000418819.1:n.1624+795_1624+796insAAAAAAAAAAAAAAAAAAAAA...
ENST00000586385.5:c.5-2862_5-2861insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000465818.1:n.5-2862_5-2861insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000591534.5:c.547+795_547+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000467329.1:n.547+795_547+796insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000591849.5:c.-98-16623_-98-16622insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ENSP00000465347.1:n.-98-16623_-98-16622insAAAAAAAAAAAAAAAAAAA...
NM_007294.3:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_292t1:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009225.1:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007297.3:c.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009228.2:n.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007298.3:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009229.2:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007299.3:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009230.2:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007300.3:c.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009231.2:n.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NR_027676.1:n.5210+795_5210+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_007294.4:c.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select NP_009225.1:n.5074+795_5074+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007297.4:c.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009228.2:n.4933+795_4933+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007299.4:c.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009230.2:n.1762+795_1762+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_007300.4:c.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NP_009231.2:n.5137+795_5137+796insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NR_027676.2:n.5251+795_5251+796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA