Canonical Allele Identifier: CA3063902865

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047696_43047697del , CM000679.2:g.43047696_43047697del	GRCh38
NC_000017.10:g.41199713_41199714del , CM000679.1:g.41199713_41199714del	GRCh37
NC_000017.9:g.38453239_38453240del	NCBI36
NG_005905.2:g.170288_170289del , LRG_292:g.170288_170289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5411_5412del	ENSP00000417241.2:p.His1804ProfsTer24
ENST00000470026.6:c.5414_5415del	ENSP00000419274.2:p.His1805ProfsTer24
ENST00000473961.6:c.5288_5289del	ENSP00000420201.2:p.His1763ProfsTer24
ENST00000476777.6:c.5408_5409del	ENSP00000417554.2:p.His1803ProfsTer24
ENST00000477152.6:c.5336_5337del	ENSP00000419988.2:p.His1779ProfsTer24
ENST00000478531.6:c.2102_2103del	ENSP00000420412.2:p.His701ProfsTer24
ENST00000489037.2:c.5336_5337del	ENSP00000420781.2:p.His1779ProfsTer24
ENST00000493919.6:c.1964_1965del	ENSP00000418819.2:p.His655ProfsTer24
ENST00000494123.6:c.5414_5415del	ENSP00000419103.2:p.His1805ProfsTer24
ENST00000497488.2:c.4526_4527del	ENSP00000418986.2:p.His1509ProfsTer24
ENST00000618469.2:c.5414_5415del	ENSP00000478114.2:p.His1805ProfsTer24
ENST00000634433.2:c.5291_5292del	ENSP00000489431.2:p.His1764ProfsTer24
ENST00000644379.2:c.5480_5481del	ENSP00000496570.2:p.His1827ProfsTer24
ENST00000644555.2:c.1964_1965del	ENSP00000494614.2:p.His655ProfsTer24
ENST00000652672.2:c.5273_5274del	ENSP00000498906.2:p.His1758ProfsTer24
ENST00000484087.6:c.1976_1977del	ENSP00000419481.2:p.His659ProfsTer24
ENST00000700081.1:n.1297_1298del
ENST00000700082.1:n.778_779del
ENST00000357654.9:c.5414_5415del MANE Select	ENSP00000350283.3:p.His1805ProfsTer24
ENST00000471181.7:c.5477_5478del	ENSP00000418960.2:p.His1826ProfsTer24
ENST00000644379.1:c.1801_1802del
ENST00000352993.7:c.1988_1989del	ENSP00000312236.5:p.His663ProfsTer24
ENST00000357654.7:c.5414_5415del	ENSP00000350283.3:p.His1805ProfsTer24
ENST00000461221.5:c.*5197_*5198del	ENSP00000418548.1:n.*5197_*5198del
ENST00000468300.5:c.2028_2029del	ENSP00000417148.1:p.Pro677GlnfsTer28
ENST00000471181.6:c.5477_5478del	ENSP00000418960.2:p.His1826ProfsTer24
ENST00000491747.6:c.2102_2103del	ENSP00000420705.2:p.His701ProfsTer24
ENST00000493795.5:c.5273_5274del	ENSP00000418775.1:p.His1758ProfsTer24
ENST00000586385.5:c.344_345del	ENSP00000465818.1:p.His115ProfsTer24
ENST00000591534.5:c.887_888del	ENSP00000467329.1:p.His296ProfsTer24
ENST00000591849.5:c.113_114del	ENSP00000465347.1:p.His38ProfsTer24
NM_007294.3:c.5414_5415del , LRG_292t1:c.5414_5415del	NP_009225.1:p.His1805ProfsTer24
NM_007297.3:c.5273_5274del	NP_009228.2:p.His1758ProfsTer24
NM_007298.3:c.2102_2103del	NP_009229.2:p.His701ProfsTer24
NM_007299.3:c.2028_2029del	NP_009230.2:p.Pro677GlnfsTer28
NM_007300.3:c.5477_5478del	NP_009231.2:p.His1826ProfsTer24
NR_027676.1:n.5550_5551del
NM_007294.4:c.5414_5415del MANE Select	NP_009225.1:p.His1805ProfsTer24
NM_007297.4:c.5273_5274del	NP_009228.2:p.His1758ProfsTer24
NM_007299.4:c.2028_2029del	NP_009230.2:p.Pro677GlnfsTer28
NM_007300.4:c.5477_5478del	NP_009231.2:p.His1826ProfsTer24
NR_027676.2:n.5591_5592del