Canonical Allele Identifier: CA003323
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063353_43063356del , CM000679.2:g.43063353_43063356del GRCh38
NC_000017.10:g.41215370_41215373del , CM000679.1:g.41215370_41215373del GRCh37
NC_000017.9:g.38468896_38468899del NCBI36
NG_005905.2:g.154635_154638del , LRG_292:g.154635_154638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5174_5177del ENSP00000417241.2:p.Arg1725LysfsTer3
ENST00000470026.6:c.5177_5180del ENSP00000419274.2:p.Arg1726LysfsTer3
ENST00000473961.6:c.5051_5054del ENSP00000420201.2:p.Arg1684LysfsTer3
ENST00000476777.6:c.5171_5174del ENSP00000417554.2:p.Arg1724LysfsTer3
ENST00000477152.6:c.5099_5102del ENSP00000419988.2:p.Arg1700LysfsTer3
ENST00000478531.6:c.1865_1868del ENSP00000420412.2:p.Arg622LysfsTer3
ENST00000489037.2:c.5099_5102del ENSP00000420781.2:p.Arg1700LysfsTer3
ENST00000493919.6:c.1727_1730del ENSP00000418819.2:p.Arg576LysfsTer3
ENST00000494123.6:c.5177_5180del ENSP00000419103.2:p.Arg1726LysfsTer3
ENST00000497488.2:c.4289_4292del ENSP00000418986.2:p.Arg1430LysfsTer3
ENST00000618469.2:c.5177_5180del ENSP00000478114.2:p.Arg1726LysfsTer3
ENST00000634433.2:c.5054_5057del ENSP00000489431.2:p.Arg1685LysfsTer3
ENST00000644379.2:c.5243_5246del ENSP00000496570.2:p.Arg1748LysfsTer3
ENST00000644555.2:c.1727_1730del ENSP00000494614.2:p.Arg576LysfsTer3
ENST00000652672.2:c.5036_5039del ENSP00000498906.2:p.Arg1679LysfsTer3
ENST00000484087.6:c.1739_1742del ENSP00000419481.2:p.Arg580LysfsTer3
ENST00000357654.9:c.5177_5180del MANE Select ENSP00000350283.3:p.Arg1726LysfsTer3
ENST00000471181.7:c.5240_5243del ENSP00000418960.2:p.Arg1747LysfsTer3
ENST00000644379.1:c.1564_1567del
ENST00000352993.7:c.1751_1754del ENSP00000312236.5:p.Arg584LysfsTer3
ENST00000357654.7:c.5177_5180del ENSP00000350283.3:p.Arg1726LysfsTer3
ENST00000461221.5:c.*4960_*4963del ENSP00000418548.1:n.*4960_*4963del
ENST00000468300.5:c.1865_1868del ENSP00000417148.1:p.Arg622LysfsTer3
ENST00000471181.6:c.5240_5243del ENSP00000418960.2:p.Arg1747LysfsTer3
ENST00000478531.5:c.1865_1868del ENSP00000420412.1:p.Arg622LysfsTer?
ENST00000484087.5:c.1490_1493del ENSP00000419481.1:p.Arg497LysfsTer?
ENST00000491747.6:c.1865_1868del ENSP00000420705.2:p.Arg622LysfsTer3
ENST00000493795.5:c.5036_5039del ENSP00000418775.1:p.Arg1679LysfsTer3
ENST00000586385.5:c.107_110del ENSP00000465818.1:p.Arg36LysfsTer3
ENST00000591534.5:c.650_653del ENSP00000467329.1:p.Arg217LysfsTer3
ENST00000591849.5:c.-98-13159_-98-13156del ENSP00000465347.1:n.-98-13159_-98-13156del
NM_007294.3:c.5177_5180del , LRG_292t1:c.5177_5180del NP_009225.1:p.Arg1726LysfsTer3
NM_007297.3:c.5036_5039del NP_009228.2:p.Arg1679LysfsTer3
NM_007298.3:c.1865_1868del NP_009229.2:p.Arg622LysfsTer3
NM_007299.3:c.1865_1868del NP_009230.2:p.Arg622LysfsTer3
NM_007300.3:c.5240_5243del NP_009231.2:p.Arg1747LysfsTer3
NR_027676.1:n.5313_5316del
NM_007294.4:c.5177_5180del MANE Select NP_009225.1:p.Arg1726LysfsTer3
NM_007297.4:c.5036_5039del NP_009228.2:p.Arg1679LysfsTer3
NM_007299.4:c.1865_1868del NP_009230.2:p.Arg622LysfsTer3
NM_007300.4:c.5240_5243del NP_009231.2:p.Arg1747LysfsTer3
NR_027676.2:n.5354_5357del