Canonical Allele Identifier: CA003538

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125833
• ClinVar RCV Id: RCV000112630
• dbSNP Id: rs80359878
• MyVariant Identifiers: chr17:g.41201147_41201174del (hg19) ; chr17:g.43049130_43049157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049131_43049158del , CM000679.2:g.43049131_43049158del	GRCh38
NC_000017.10:g.41201148_41201175del , CM000679.1:g.41201148_41201175del	GRCh37
NC_000017.9:g.38454674_38454701del	NCBI36
NG_005905.2:g.168827_168854del , LRG_292:g.168827_168854del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5367_5394del	ENSP00000417241.2:p.Val1790LeufsTer?
ENST00000470026.6:c.5370_5397del	ENSP00000419274.2:p.Val1791LeufsTer?
ENST00000473961.6:c.5244_5271del	ENSP00000420201.2:p.Val1749LeufsTer?
ENST00000476777.6:c.5364_5391del	ENSP00000417554.2:p.Val1789LeufsTer?
ENST00000477152.6:c.5292_5319del	ENSP00000419988.2:p.Val1765LeufsTer?
ENST00000478531.6:c.2058_2085del	ENSP00000420412.2:p.Val687LeufsTer?
ENST00000489037.2:c.5292_5319del	ENSP00000420781.2:p.Val1765LeufsTer?
ENST00000493919.6:c.1920_1947del	ENSP00000418819.2:p.Val641LeufsTer?
ENST00000494123.6:c.5370_5397del	ENSP00000419103.2:p.Val1791LeufsTer?
ENST00000497488.2:c.4482_4509del	ENSP00000418986.2:p.Val1495LeufsTer?
ENST00000618469.2:c.5370_5397del	ENSP00000478114.2:p.Val1791LeufsTer?
ENST00000634433.2:c.5247_5274del	ENSP00000489431.2:p.Val1750LeufsTer?
ENST00000644379.2:c.5436_5463del	ENSP00000496570.2:p.Val1813LeufsTer?
ENST00000644555.2:c.1920_1947del	ENSP00000494614.2:p.Val641LeufsTer?
ENST00000652672.2:c.5229_5256del	ENSP00000498906.2:p.Val1744LeufsTer?
ENST00000484087.6:c.1932_1959del	ENSP00000419481.2:p.Val645LeufsTer?
ENST00000700081.1:n.1253_1280del
ENST00000357654.9:c.5370_5397del MANE Select	ENSP00000350283.3:p.Val1791LeufsTer?
ENST00000471181.7:c.5433_5460del	ENSP00000418960.2:p.Val1812LeufsTer?
ENST00000644379.1:c.1757_1784del
ENST00000352993.7:c.1944_1971del	ENSP00000312236.5:p.Val649LeufsTer?
ENST00000357654.7:c.5370_5397del	ENSP00000350283.3:p.Val1791LeufsTer?
ENST00000461221.5:c.*5153_*5180del	ENSP00000418548.1:n.*5153_*5180del
ENST00000468300.5:c.2021-1454_2021-1427del	ENSP00000417148.1:n.2021-1454_2021-1427de...
ENST00000471181.6:c.5433_5460del	ENSP00000418960.2:p.Val1812LeufsTer?
ENST00000491747.6:c.2058_2085del	ENSP00000420705.2:p.Val687LeufsTer?
ENST00000493795.5:c.5229_5256del	ENSP00000418775.1:p.Val1744LeufsTer?
ENST00000586385.5:c.300_327del	ENSP00000465818.1:p.Val101LeufsTer?
ENST00000591534.5:c.843_870del	ENSP00000467329.1:p.Val282LeufsTer?
ENST00000591849.5:c.69_96del	ENSP00000465347.1:p.Val24LeufsTer?
NM_007294.3:c.5370_5397del , LRG_292t1:c.5370_5397del	NP_009225.1:p.Val1791LeufsTer?
NM_007297.3:c.5229_5256del	NP_009228.2:p.Val1744LeufsTer?
NM_007298.3:c.2058_2085del	NP_009229.2:p.Val687LeufsTer?
NM_007299.3:c.2021-1454_2021-1427del	NP_009230.2:n.2021-1454_2021-1427del
NM_007300.3:c.5433_5460del	NP_009231.2:p.Val1812LeufsTer?
NR_027676.1:n.5506_5533del
NM_007294.4:c.5370_5397del MANE Select	NP_009225.1:p.Val1791LeufsTer?
NM_007297.4:c.5229_5256del	NP_009228.2:p.Val1744LeufsTer?
NM_007299.4:c.2021-1454_2021-1427del	NP_009230.2:n.2021-1454_2021-1427del
NM_007300.4:c.5433_5460del	NP_009231.2:p.Val1812LeufsTer?
NR_027676.2:n.5547_5574del