Canonical Allele Identifier: CA658825021

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548281
• ClinVar RCV Id: RCV000661259
• dbSNP Id: rs1555584178
• MyVariant Identifiers: chr17:g.41234534_41234535insA (hg19) ; chr17:g.43082517_43082518insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082517_43082518insA , CM000679.2:g.43082517_43082518insA	GRCh38
NC_000017.10:g.41234534_41234535insA , CM000679.1:g.41234534_41234535insA	GRCh37
NC_000017.9:g.38488060_38488061insA	NCBI36
NG_005905.2:g.135466_135467insT , LRG_292:g.135466_135467insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4243_4244insT	ENSP00000417241.2:p.Glu1415ValfsTer13
ENST00000470026.6:c.4243_4244insT	ENSP00000419274.2:p.Glu1415ValfsTer13
ENST00000473961.6:c.4117_4118insT	ENSP00000420201.2:p.Glu1373ValfsTer13
ENST00000476777.6:c.4237_4238insT	ENSP00000417554.2:p.Glu1413ValfsTer13
ENST00000477152.6:c.4165_4166insT	ENSP00000419988.2:p.Glu1389ValfsTer13
ENST00000478531.6:c.931_932insT	ENSP00000420412.2:p.Glu311ValfsTer13
ENST00000489037.2:c.4165_4166insT	ENSP00000420781.2:p.Glu1389ValfsTer13
ENST00000493919.6:c.793_794insT	ENSP00000418819.2:p.Glu265ValfsTer13
ENST00000494123.6:c.4243_4244insT	ENSP00000419103.2:p.Glu1415ValfsTer13
ENST00000497488.2:c.3355_3356insT	ENSP00000418986.2:p.Glu1119ValfsTer13
ENST00000618469.2:c.4243_4244insT	ENSP00000478114.2:p.Glu1415ValfsTer13
ENST00000634433.2:c.4120_4121insT	ENSP00000489431.2:p.Glu1374ValfsTer13
ENST00000644379.2:c.4243_4244insT	ENSP00000496570.2:p.Glu1415ValfsTer13
ENST00000644555.2:c.793_794insT	ENSP00000494614.2:p.Glu265ValfsTer13
ENST00000652672.2:c.4102_4103insT	ENSP00000498906.2:p.Glu1368ValfsTer13
ENST00000484087.6:c.808_809insT	ENSP00000419481.2:p.Glu270ValfsTer13
ENST00000700182.1:c.853_854insT	ENSP00000514849.1:p.Glu285ValfsTer13
ENST00000357654.9:c.4243_4244insT MANE Select	ENSP00000350283.3:p.Glu1415ValfsTer13
ENST00000471181.7:c.4243_4244insT	ENSP00000418960.2:p.Glu1415ValfsTer13
ENST00000644379.1:c.564_565insT
ENST00000352993.7:c.817_818insT	ENSP00000312236.5:p.Glu273ValfsTer13
ENST00000357654.7:c.4243_4244insT	ENSP00000350283.3:p.Glu1415ValfsTer13
ENST00000461221.5:c.*4026_*4027insT	ENSP00000418548.1:n.*4026_*4027insT
ENST00000461574.1:c.537_538insT
ENST00000468300.5:c.934_935insT	ENSP00000417148.1:p.Glu312ValfsTer13
ENST00000471181.6:c.4243_4244insT	ENSP00000418960.2:p.Glu1415ValfsTer13
ENST00000478531.5:c.931_932insT	ENSP00000420412.1:p.Glu311ValfsTer13
ENST00000484087.5:c.556_557insT	ENSP00000419481.1:p.Glu186ValfsTer13
ENST00000487825.5:c.559_560insT	ENSP00000418212.1:p.Glu187ValfsTer13
ENST00000491747.6:c.934_935insT	ENSP00000420705.2:p.Glu312ValfsTer13
ENST00000493795.5:c.4102_4103insT	ENSP00000418775.1:p.Glu1368ValfsTer13
ENST00000493919.5:c.793_794insT	ENSP00000418819.1:p.Glu265ValfsTer13
ENST00000586385.5:c.5-18567_5-18566insT	ENSP00000465818.1:n.5-18567_5-18566insT
ENST00000591534.5:c.-43-7997_-43-7996insT	ENSP00000467329.1:n.-43-7997_-43-7996insT
ENST00000591849.5:c.-98-32328_-98-32327insT	ENSP00000465347.1:n.-98-32328_-98-32327insT
ENST00000621897.1:n.137_138insT
NM_007294.3:c.4243_4244insT , LRG_292t1:c.4243_4244insT	NP_009225.1:p.Glu1415ValfsTer13
NM_007297.3:c.4102_4103insT	NP_009228.2:p.Glu1368ValfsTer13
NM_007298.3:c.934_935insT	NP_009229.2:p.Glu312ValfsTer13
NM_007299.3:c.934_935insT	NP_009230.2:p.Glu312ValfsTer13
NM_007300.3:c.4243_4244insT	NP_009231.2:p.Glu1415ValfsTer13
NR_027676.1:n.4379_4380insT
NM_007294.4:c.4243_4244insT MANE Select	NP_009225.1:p.Glu1415ValfsTer13
NM_007297.4:c.4102_4103insT	NP_009228.2:p.Glu1368ValfsTer13
NM_007299.4:c.934_935insT	NP_009230.2:p.Glu312ValfsTer13
NM_007300.4:c.4243_4244insT	NP_009231.2:p.Glu1415ValfsTer13
NR_027676.2:n.4420_4421insT