Canonical Allele Identifier: CA003609

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125850
• ClinVar RCV Id: RCV000112658
• dbSNP Id: rs273902769
• MyVariant Identifiers: chr17:g.41199662_41199663insA (hg19) ; chr17:g.43047645_43047646insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047645_43047646insA , CM000679.2:g.43047645_43047646insA	GRCh38
NC_000017.10:g.41199662_41199663insA , CM000679.1:g.41199662_41199663insA	GRCh37
NC_000017.9:g.38453188_38453189insA	NCBI36
NG_005905.2:g.170338_170339insT , LRG_292:g.170338_170339insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5461_5462insT	ENSP00000417241.2:p.His1821LeufsTer8
ENST00000470026.6:c.5464_5465insT	ENSP00000419274.2:p.His1822LeufsTer8
ENST00000473961.6:c.5338_5339insT	ENSP00000420201.2:p.His1780LeufsTer8
ENST00000476777.6:c.5458_5459insT	ENSP00000417554.2:p.His1820LeufsTer8
ENST00000477152.6:c.5386_5387insT	ENSP00000419988.2:p.His1796LeufsTer8
ENST00000478531.6:c.2152_2153insT	ENSP00000420412.2:p.His718LeufsTer8
ENST00000489037.2:c.5386_5387insT	ENSP00000420781.2:p.His1796LeufsTer8
ENST00000493919.6:c.2014_2015insT	ENSP00000418819.2:p.His672LeufsTer8
ENST00000494123.6:c.5464_5465insT	ENSP00000419103.2:p.His1822LeufsTer8
ENST00000497488.2:c.4576_4577insT	ENSP00000418986.2:p.His1526LeufsTer8
ENST00000618469.2:c.5464_5465insT	ENSP00000478114.2:p.His1822LeufsTer8
ENST00000634433.2:c.5341_5342insT	ENSP00000489431.2:p.His1781LeufsTer8
ENST00000644379.2:c.5530_5531insT	ENSP00000496570.2:p.His1844LeufsTer8
ENST00000644555.2:c.2014_2015insT	ENSP00000494614.2:p.His672LeufsTer8
ENST00000652672.2:c.5323_5324insT	ENSP00000498906.2:p.His1775LeufsTer8
ENST00000484087.6:c.2026_2027insT	ENSP00000419481.2:p.His676LeufsTer8
ENST00000700081.1:n.1347_1348insT
ENST00000700082.1:n.828_829insT
ENST00000357654.9:c.5464_5465insT MANE Select	ENSP00000350283.3:p.His1822LeufsTer8
ENST00000471181.7:c.5527_5528insT	ENSP00000418960.2:p.His1843LeufsTer8
ENST00000644379.1:c.1851_1852insT
ENST00000352993.7:c.2038_2039insT	ENSP00000312236.5:p.His680LeufsTer8
ENST00000357654.7:c.5464_5465insT	ENSP00000350283.3:p.His1822LeufsTer8
ENST00000461221.5:c.*5247_*5248insT	ENSP00000418548.1:n.*5247_*5248insT
ENST00000468300.5:c.2078_2079insT	ENSP00000417148.1:p.Cys694MetfsTer12
ENST00000471181.6:c.5527_5528insT	ENSP00000418960.2:p.His1843LeufsTer8
ENST00000491747.6:c.2152_2153insT	ENSP00000420705.2:p.His718LeufsTer8
ENST00000493795.5:c.5323_5324insT	ENSP00000418775.1:p.His1775LeufsTer8
ENST00000586385.5:c.394_395insT	ENSP00000465818.1:p.His132LeufsTer8
ENST00000591534.5:c.937_938insT	ENSP00000467329.1:p.His313LeufsTer8
ENST00000591849.5:c.163_164insT	ENSP00000465347.1:p.His55LeufsTer8
NM_007294.3:c.5464_5465insT , LRG_292t1:c.5464_5465insT	NP_009225.1:p.His1822LeufsTer8
NM_007297.3:c.5323_5324insT	NP_009228.2:p.His1775LeufsTer8
NM_007298.3:c.2152_2153insT	NP_009229.2:p.His718LeufsTer8
NM_007299.3:c.2078_2079insT	NP_009230.2:p.Cys694MetfsTer12
NM_007300.3:c.5527_5528insT	NP_009231.2:p.His1843LeufsTer8
NR_027676.1:n.5600_5601insT
NM_007294.4:c.5464_5465insT MANE Select	NP_009225.1:p.His1822LeufsTer8
NM_007297.4:c.5323_5324insT	NP_009228.2:p.His1775LeufsTer8
NM_007299.4:c.2078_2079insT	NP_009230.2:p.Cys694MetfsTer12
NM_007300.4:c.5527_5528insT	NP_009231.2:p.His1843LeufsTer8
NR_027676.2:n.5641_5642insT