Canonical Allele Identifier: CA2580093938

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1747503
• ClinVar RCV Id: RCV002349555 ; RCV003102730

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047671_43047678del , CM000679.2:g.43047671_43047678del	GRCh38
NC_000017.10:g.41199688_41199695del , CM000679.1:g.41199688_41199695del	GRCh37
NC_000017.9:g.38453214_38453221del	NCBI36
NG_005905.2:g.170306_170313del , LRG_292:g.170306_170313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5429_5436del	ENSP00000417241.2:p.Gln1810ArgfsTer16
ENST00000470026.6:c.5432_5439del	ENSP00000419274.2:p.Gln1811ArgfsTer16
ENST00000473961.6:c.5306_5313del	ENSP00000420201.2:p.Gln1769ArgfsTer16
ENST00000476777.6:c.5426_5433del	ENSP00000417554.2:p.Gln1809ArgfsTer16
ENST00000477152.6:c.5354_5361del	ENSP00000419988.2:p.Gln1785ArgfsTer16
ENST00000478531.6:c.2120_2127del	ENSP00000420412.2:p.Gln707ArgfsTer16
ENST00000489037.2:c.5354_5361del	ENSP00000420781.2:p.Gln1785ArgfsTer16
ENST00000493919.6:c.1982_1989del	ENSP00000418819.2:p.Gln661ArgfsTer16
ENST00000494123.6:c.5432_5439del	ENSP00000419103.2:p.Gln1811ArgfsTer16
ENST00000497488.2:c.4544_4551del	ENSP00000418986.2:p.Gln1515ArgfsTer16
ENST00000618469.2:c.5432_5439del	ENSP00000478114.2:p.Gln1811ArgfsTer16
ENST00000634433.2:c.5309_5316del	ENSP00000489431.2:p.Gln1770ArgfsTer16
ENST00000644379.2:c.5498_5505del	ENSP00000496570.2:p.Gln1833ArgfsTer16
ENST00000644555.2:c.1982_1989del	ENSP00000494614.2:p.Gln661ArgfsTer16
ENST00000652672.2:c.5291_5298del	ENSP00000498906.2:p.Gln1764ArgfsTer16
ENST00000484087.6:c.1994_2001del	ENSP00000419481.2:p.Gln665ArgfsTer16
ENST00000700081.1:n.1315_1322del
ENST00000700082.1:n.796_803del
ENST00000357654.9:c.5432_5439del MANE Select	ENSP00000350283.3:p.Gln1811ArgfsTer16
ENST00000471181.7:c.5495_5502del	ENSP00000418960.2:p.Gln1832ArgfsTer16
ENST00000644379.1:c.1819_1826del
ENST00000352993.7:c.2006_2013del	ENSP00000312236.5:p.Gln669ArgfsTer16
ENST00000357654.7:c.5432_5439del	ENSP00000350283.3:p.Gln1811ArgfsTer16
ENST00000461221.5:c.*5215_*5222del	ENSP00000418548.1:n.*5215_*5222del
ENST00000468300.5:c.2046_2053del	ENSP00000417148.1:p.Ala683ProfsTer20
ENST00000471181.6:c.5495_5502del	ENSP00000418960.2:p.Gln1832ArgfsTer16
ENST00000491747.6:c.2120_2127del	ENSP00000420705.2:p.Gln707ArgfsTer16
ENST00000493795.5:c.5291_5298del	ENSP00000418775.1:p.Gln1764ArgfsTer16
ENST00000586385.5:c.362_369del	ENSP00000465818.1:p.Gln121ArgfsTer16
ENST00000591534.5:c.905_912del	ENSP00000467329.1:p.Gln302ArgfsTer16
ENST00000591849.5:c.131_138del	ENSP00000465347.1:p.Gln44ArgfsTer16
NM_007294.3:c.5432_5439del , LRG_292t1:c.5432_5439del	NP_009225.1:p.Gln1811ArgfsTer16
NM_007297.3:c.5291_5298del	NP_009228.2:p.Gln1764ArgfsTer16
NM_007298.3:c.2120_2127del	NP_009229.2:p.Gln707ArgfsTer16
NM_007299.3:c.2046_2053del	NP_009230.2:p.Ala683ProfsTer20
NM_007300.3:c.5495_5502del	NP_009231.2:p.Gln1832ArgfsTer16
NR_027676.1:n.5568_5575del
NM_007294.4:c.5432_5439del MANE Select	NP_009225.1:p.Gln1811ArgfsTer16
NM_007297.4:c.5291_5298del	NP_009228.2:p.Gln1764ArgfsTer16
NM_007299.4:c.2046_2053del	NP_009230.2:p.Ala683ProfsTer20
NM_007300.4:c.5495_5502del	NP_009231.2:p.Gln1832ArgfsTer16
NR_027676.2:n.5609_5616del