Canonical Allele Identifier: CA658761190

Gene: BRCA1

Linked Data

• PubMed: PMID:26183948

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049125_43049131del , CM000679.2:g.43049125_43049131del	GRCh38
NC_000017.10:g.41201142_41201148del , CM000679.1:g.41201142_41201148del	GRCh37
NC_000017.9:g.38454668_38454674del	NCBI36
NG_005905.2:g.168854_168860del , LRG_292:g.168854_168860del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5394_5400del	ENSP00000417241.2:p.Leu1799GlnfsTer?
ENST00000470026.6:c.5397_5403del	ENSP00000419274.2:p.Leu1800GlnfsTer?
ENST00000473961.6:c.5271_5277del	ENSP00000420201.2:p.Leu1758GlnfsTer?
ENST00000476777.6:c.5391_5397del	ENSP00000417554.2:p.Leu1798GlnfsTer?
ENST00000477152.6:c.5319_5325del	ENSP00000419988.2:p.Leu1774GlnfsTer?
ENST00000478531.6:c.2085_2091del	ENSP00000420412.2:p.Leu696GlnfsTer?
ENST00000489037.2:c.5319_5325del	ENSP00000420781.2:p.Leu1774GlnfsTer?
ENST00000493919.6:c.1947_1953del	ENSP00000418819.2:p.Leu650GlnfsTer?
ENST00000494123.6:c.5397_5403del	ENSP00000419103.2:p.Leu1800GlnfsTer?
ENST00000497488.2:c.4509_4515del	ENSP00000418986.2:p.Leu1504GlnfsTer?
ENST00000618469.2:c.5397_5403del	ENSP00000478114.2:p.Leu1800GlnfsTer?
ENST00000634433.2:c.5274_5280del	ENSP00000489431.2:p.Leu1759GlnfsTer?
ENST00000644379.2:c.5463_5469del	ENSP00000496570.2:p.Leu1822GlnfsTer?
ENST00000644555.2:c.1947_1953del	ENSP00000494614.2:p.Leu650GlnfsTer?
ENST00000652672.2:c.5256_5262del	ENSP00000498906.2:p.Leu1753GlnfsTer?
ENST00000484087.6:c.1959_1965del	ENSP00000419481.2:p.Leu654GlnfsTer?
ENST00000700081.1:n.1280_1286del
ENST00000357654.9:c.5397_5403del MANE Select	ENSP00000350283.3:p.Leu1800GlnfsTer?
ENST00000471181.7:c.5460_5466del	ENSP00000418960.2:p.Leu1821GlnfsTer?
ENST00000644379.1:c.1784_1790del
ENST00000352993.7:c.1971_1977del	ENSP00000312236.5:p.Leu658GlnfsTer?
ENST00000357654.7:c.5397_5403del	ENSP00000350283.3:p.Leu1800GlnfsTer?
ENST00000461221.5:c.*5180_*5186del	ENSP00000418548.1:n.*5180_*5186del
ENST00000468300.5:c.2021-1427_2021-1421del	ENSP00000417148.1:n.2021-1427_2021-1421de...
ENST00000471181.6:c.5460_5466del	ENSP00000418960.2:p.Leu1821GlnfsTer?
ENST00000491747.6:c.2085_2091del	ENSP00000420705.2:p.Leu696GlnfsTer?
ENST00000493795.5:c.5256_5262del	ENSP00000418775.1:p.Leu1753GlnfsTer?
ENST00000586385.5:c.327_333del	ENSP00000465818.1:p.Leu110GlnfsTer?
ENST00000591534.5:c.870_876del	ENSP00000467329.1:p.Leu291GlnfsTer?
ENST00000591849.5:c.96_102del	ENSP00000465347.1:p.Leu33GlnfsTer?
NM_007294.3:c.5397_5403del , LRG_292t1:c.5397_5403del	NP_009225.1:p.Leu1800GlnfsTer?
NM_007297.3:c.5256_5262del	NP_009228.2:p.Leu1753GlnfsTer?
NM_007298.3:c.2085_2091del	NP_009229.2:p.Leu696GlnfsTer?
NM_007299.3:c.2021-1427_2021-1421del	NP_009230.2:n.2021-1427_2021-1421del
NM_007300.3:c.5460_5466del	NP_009231.2:p.Leu1821GlnfsTer?
NR_027676.1:n.5533_5539del
NM_007294.4:c.5397_5403del MANE Select	NP_009225.1:p.Leu1800GlnfsTer?
NM_007297.4:c.5256_5262del	NP_009228.2:p.Leu1753GlnfsTer?
NM_007299.4:c.2021-1427_2021-1421del	NP_009230.2:n.2021-1427_2021-1421del
NM_007300.4:c.5460_5466del	NP_009231.2:p.Leu1821GlnfsTer?
NR_027676.2:n.5574_5580del