Canonical Allele Identifier: CA003043

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 180697
• ClinVar RCV Id: RCV000157652 ; RCV000759549
• dbSNP Id: rs730880287
• MyVariant Identifiers: chr17:g.41223093_41223094delinsGGC (hg19) ; chr17:g.43071076_43071077delinsGGC (hg38)
• PubMed: PMID:26911350

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071076_43071077delinsGGC , CM000679.2:g.43071076_43071077delinsGGC	GRCh38
NC_000017.10:g.41223093_41223094delinsGGC , CM000679.1:g.41223093_41223094delinsGGC	GRCh37
NC_000017.9:g.38476619_38476620delinsGGC	NCBI36
NG_005905.2:g.146907_146908delinsGCC , LRG_292:g.146907_146908delinsGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4834_4835delinsGCC	ENSP00000417241.2:p.Ser1612AlafsTer9
ENST00000470026.6:c.4837_4838delinsGCC	ENSP00000419274.2:p.Ser1613AlafsTer9
ENST00000473961.6:c.4711_4712delinsGCC	ENSP00000420201.2:p.Ser1571AlafsTer9
ENST00000476777.6:c.4831_4832delinsGCC	ENSP00000417554.2:p.Ser1611AlafsTer9
ENST00000477152.6:c.4759_4760delinsGCC	ENSP00000419988.2:p.Ser1587AlafsTer9
ENST00000478531.6:c.1525_1526delinsGCC	ENSP00000420412.2:p.Ser509AlafsTer9
ENST00000489037.2:c.4759_4760delinsGCC	ENSP00000420781.2:p.Ser1587AlafsTer9
ENST00000493919.6:c.1387_1388delinsGCC	ENSP00000418819.2:p.Ser463AlafsTer9
ENST00000494123.6:c.4837_4838delinsGCC	ENSP00000419103.2:p.Ser1613AlafsTer9
ENST00000497488.2:c.3949_3950delinsGCC	ENSP00000418986.2:p.Ser1317AlafsTer9
ENST00000618469.2:c.4837_4838delinsGCC	ENSP00000478114.2:p.Ser1613AlafsTer9
ENST00000634433.2:c.4714_4715delinsGCC	ENSP00000489431.2:p.Ser1572AlafsTer9
ENST00000644379.2:c.4903_4904delinsGCC	ENSP00000496570.2:p.Ser1635AlafsTer9
ENST00000644555.2:c.1387_1388delinsGCC	ENSP00000494614.2:p.Ser463AlafsTer9
ENST00000652672.2:c.4696_4697delinsGCC	ENSP00000498906.2:p.Ser1566AlafsTer9
ENST00000484087.6:c.1399_1400delinsGCC	ENSP00000419481.2:p.Ser467AlafsTer9
ENST00000700182.1:c.1444_1445delinsGCC	ENSP00000514849.1:p.Ser482AlafsTer9
ENST00000357654.9:c.4837_4838delinsGCC MANE Select	ENSP00000350283.3:p.Ser1613AlafsTer9
ENST00000471181.7:c.4900_4901delinsGCC	ENSP00000418960.2:p.Ser1634AlafsTer9
ENST00000644379.1:c.1224_1225delinsGCC
ENST00000352993.7:c.1411_1412delinsGCC	ENSP00000312236.5:p.Ser471AlafsTer9
ENST00000357654.7:c.4837_4838delinsGCC	ENSP00000350283.3:p.Ser1613AlafsTer9
ENST00000461221.5:c.*4620_*4621delinsGCC	ENSP00000418548.1:n.*4620_*4621delinsGCC
ENST00000468300.5:c.1525_1526delinsGCC	ENSP00000417148.1:p.Ser509AlafsTer9
ENST00000471181.6:c.4900_4901delinsGCC	ENSP00000418960.2:p.Ser1634AlafsTer9
ENST00000478531.5:c.1525_1526delinsGCC	ENSP00000420412.1:p.Ser509AlafsTer9
ENST00000484087.5:c.1150_1151delinsGCC	ENSP00000419481.1:p.Ser384AlafsTer9
ENST00000491747.6:c.1525_1526delinsGCC	ENSP00000420705.2:p.Ser509AlafsTer9
ENST00000493795.5:c.4696_4697delinsGCC	ENSP00000418775.1:p.Ser1566AlafsTer9
ENST00000493919.5:c.1387_1388delinsGCC	ENSP00000418819.1:p.Ser463AlafsTer9
ENST00000586385.5:c.5-7126_5-7125delinsGCC	ENSP00000465818.1:n.5-7126_5-7125delinsGC...
ENST00000591534.5:c.310_311delinsGCC	ENSP00000467329.1:p.Ser104AlafsTer9
ENST00000591849.5:c.-98-20887_-98-20886delinsGCC	ENSP00000465347.1:n.-98-20887_-98-20886de...
NM_007294.3:c.4837_4838delinsGCC , LRG_292t1:c.4837_4838delinsGCC	NP_009225.1:p.Ser1613AlafsTer9
NM_007297.3:c.4696_4697delinsGCC	NP_009228.2:p.Ser1566AlafsTer9
NM_007298.3:c.1525_1526delinsGCC	NP_009229.2:p.Ser509AlafsTer9
NM_007299.3:c.1525_1526delinsGCC	NP_009230.2:p.Ser509AlafsTer9
NM_007300.3:c.4900_4901delinsGCC	NP_009231.2:p.Ser1634AlafsTer9
NR_027676.1:n.4973_4974delinsGCC
NM_007294.4:c.4837_4838delinsGCC MANE Select	NP_009225.1:p.Ser1613AlafsTer9
NM_007297.4:c.4696_4697delinsGCC	NP_009228.2:p.Ser1566AlafsTer9
NM_007299.4:c.1525_1526delinsGCC	NP_009230.2:p.Ser509AlafsTer9
NM_007300.4:c.4900_4901delinsGCC	NP_009231.2:p.Ser1634AlafsTer9
NR_027676.2:n.5014_5015delinsGCC