Canonical Allele Identifier: CA2260771271
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067555_43067557delinsCAT , CM000679.2:g.43067555_43067557delinsCAT GRCh38
NC_000017.10:g.41219572_41219574delinsCAT , CM000679.1:g.41219572_41219574delinsCAT GRCh37
NC_000017.9:g.38473098_38473100delinsCAT NCBI36
NG_005905.2:g.150427_150429delinsATG , LRG_292:g.150427_150429delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+51_5071+53delinsATG ENSP00000417241.2:n.5071+51_5071+53delinsATG
ENST00000470026.6:c.5074+51_5074+53delinsATG ENSP00000419274.2:n.5074+51_5074+53delinsATG
ENST00000473961.6:c.4948+51_4948+53delinsATG ENSP00000420201.2:n.4948+51_4948+53delinsATG
ENST00000476777.6:c.5068+51_5068+53delinsATG ENSP00000417554.2:n.5068+51_5068+53delinsATG
ENST00000477152.6:c.4996+51_4996+53delinsATG ENSP00000419988.2:n.4996+51_4996+53delinsATG
ENST00000478531.6:c.1762+51_1762+53delinsATG ENSP00000420412.2:n.1762+51_1762+53delinsATG
ENST00000489037.2:c.4996+51_4996+53delinsATG ENSP00000420781.2:n.4996+51_4996+53delinsATG
ENST00000493919.6:c.1624+51_1624+53delinsATG ENSP00000418819.2:n.1624+51_1624+53delinsATG
ENST00000494123.6:c.5074+51_5074+53delinsATG ENSP00000419103.2:n.5074+51_5074+53delinsATG
ENST00000497488.2:c.4186+51_4186+53delinsATG ENSP00000418986.2:n.4186+51_4186+53delinsATG
ENST00000618469.2:c.5074+51_5074+53delinsATG ENSP00000478114.2:n.5074+51_5074+53delinsATG
ENST00000634433.2:c.4951+51_4951+53delinsATG ENSP00000489431.2:n.4951+51_4951+53delinsATG
ENST00000644379.2:c.5140+51_5140+53delinsATG ENSP00000496570.2:n.5140+51_5140+53delinsATG
ENST00000644555.2:c.1624+51_1624+53delinsATG ENSP00000494614.2:n.1624+51_1624+53delinsATG
ENST00000652672.2:c.4933+51_4933+53delinsATG ENSP00000498906.2:n.4933+51_4933+53delinsATG
ENST00000484087.6:c.1636+51_1636+53delinsATG ENSP00000419481.2:n.1636+51_1636+53delinsATG
ENST00000357654.9:c.5074+51_5074+53delinsATG MANE Select ENSP00000350283.3:n.5074+51_5074+53delinsATG
ENST00000471181.7:c.5137+51_5137+53delinsATG ENSP00000418960.2:n.5137+51_5137+53delinsATG
ENST00000644379.1:c.1461+51_1461+53delinsATG
ENST00000352993.7:c.1648+51_1648+53delinsATG ENSP00000312236.5:n.1648+51_1648+53delinsATG
ENST00000357654.7:c.5074+51_5074+53delinsATG ENSP00000350283.3:n.5074+51_5074+53delinsATG
ENST00000461221.5:c.*4857+51_*4857+53delinsATG ENSP00000418548.1:n.*4857+51_*4857+53delinsATG
ENST00000468300.5:c.1762+51_1762+53delinsATG ENSP00000417148.1:n.1762+51_1762+53delinsATG
ENST00000471181.6:c.5137+51_5137+53delinsATG ENSP00000418960.2:n.5137+51_5137+53delinsATG
ENST00000472490.1:n.278_280delinsATG
ENST00000478531.5:c.1762+51_1762+53delinsATG ENSP00000420412.1:n.1762+51_1762+53delinsATG
ENST00000484087.5:c.1387+51_1387+53delinsATG ENSP00000419481.1:n.1387+51_1387+53delinsATG
ENST00000491747.6:c.1762+51_1762+53delinsATG ENSP00000420705.2:n.1762+51_1762+53delinsATG
ENST00000493795.5:c.4933+51_4933+53delinsATG ENSP00000418775.1:n.4933+51_4933+53delinsATG
ENST00000493919.5:c.1624+51_1624+53delinsATG ENSP00000418819.1:n.1624+51_1624+53delinsATG
ENST00000586385.5:c.5-3606_5-3604delinsATG ENSP00000465818.1:n.5-3606_5-3604delinsATG
ENST00000591534.5:c.547+51_547+53delinsATG ENSP00000467329.1:n.547+51_547+53delinsATG
ENST00000591849.5:c.-98-17367_-98-17365delinsATG ENSP00000465347.1:n.-98-17367_-98-17365delinsATG
NM_007294.3:c.5074+51_5074+53delinsATG , LRG_292t1:c.5074+51_5074+53delinsATG NP_009225.1:n.5074+51_5074+53delinsATG
NM_007297.3:c.4933+51_4933+53delinsATG NP_009228.2:n.4933+51_4933+53delinsATG
NM_007298.3:c.1762+51_1762+53delinsATG NP_009229.2:n.1762+51_1762+53delinsATG
NM_007299.3:c.1762+51_1762+53delinsATG NP_009230.2:n.1762+51_1762+53delinsATG
NM_007300.3:c.5137+51_5137+53delinsATG NP_009231.2:n.5137+51_5137+53delinsATG
NR_027676.1:n.5210+51_5210+53delinsATG
NM_007294.4:c.5074+51_5074+53delinsATG MANE Select NP_009225.1:n.5074+51_5074+53delinsATG
NM_007297.4:c.4933+51_4933+53delinsATG NP_009228.2:n.4933+51_4933+53delinsATG
NM_007299.4:c.1762+51_1762+53delinsATG NP_009230.2:n.1762+51_1762+53delinsATG
NM_007300.4:c.5137+51_5137+53delinsATG NP_009231.2:n.5137+51_5137+53delinsATG
NR_027676.2:n.5251+51_5251+53delinsATG