Canonical Allele Identifier: CA913188824

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 919925
• ClinVar RCV Id: RCV001178402 ; RCV001875895 ; RCV003145366
• dbSNP Id: rs2052398037

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071076_43071077delinsTC , CM000679.2:g.43071076_43071077delinsTC	GRCh38
NC_000017.10:g.41223093_41223094delinsTC , CM000679.1:g.41223093_41223094delinsTC	GRCh37
NC_000017.9:g.38476619_38476620delinsTC	NCBI36
NG_005905.2:g.146907_146908delinsGA , LRG_292:g.146907_146908delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4834_4835delinsGA	ENSP00000417241.2:p.Ser1612Asp
ENST00000470026.6:c.4837_4838delinsGA	ENSP00000419274.2:p.Ser1613Asp
ENST00000473961.6:c.4711_4712delinsGA	ENSP00000420201.2:p.Ser1571Asp
ENST00000476777.6:c.4831_4832delinsGA	ENSP00000417554.2:p.Ser1611Asp
ENST00000477152.6:c.4759_4760delinsGA	ENSP00000419988.2:p.Ser1587Asp
ENST00000478531.6:c.1525_1526delinsGA	ENSP00000420412.2:p.Ser509Asp
ENST00000489037.2:c.4759_4760delinsGA	ENSP00000420781.2:p.Ser1587Asp
ENST00000493919.6:c.1387_1388delinsGA	ENSP00000418819.2:p.Ser463Asp
ENST00000494123.6:c.4837_4838delinsGA	ENSP00000419103.2:p.Ser1613Asp
ENST00000497488.2:c.3949_3950delinsGA	ENSP00000418986.2:p.Ser1317Asp
ENST00000618469.2:c.4837_4838delinsGA	ENSP00000478114.2:p.Ser1613Asp
ENST00000634433.2:c.4714_4715delinsGA	ENSP00000489431.2:p.Ser1572Asp
ENST00000644379.2:c.4903_4904delinsGA	ENSP00000496570.2:p.Ser1635Asp
ENST00000644555.2:c.1387_1388delinsGA	ENSP00000494614.2:p.Ser463Asp
ENST00000652672.2:c.4696_4697delinsGA	ENSP00000498906.2:p.Ser1566Asp
ENST00000484087.6:c.1399_1400delinsGA	ENSP00000419481.2:p.Ser467Asp
ENST00000700182.1:c.1444_1445delinsGA	ENSP00000514849.1:p.Ser482Asp
ENST00000357654.9:c.4837_4838delinsGA MANE Select	ENSP00000350283.3:p.Ser1613Asp
ENST00000471181.7:c.4900_4901delinsGA	ENSP00000418960.2:p.Ser1634Asp
ENST00000644379.1:c.1224_1225delinsGA
ENST00000352993.7:c.1411_1412delinsGA	ENSP00000312236.5:p.Ser471Asp
ENST00000357654.7:c.4837_4838delinsGA	ENSP00000350283.3:p.Ser1613Asp
ENST00000461221.5:c.*4620_*4621delinsGA	ENSP00000418548.1:n.*4620_*4621delinsGA
ENST00000468300.5:c.1525_1526delinsGA	ENSP00000417148.1:p.Ser509Asp
ENST00000471181.6:c.4900_4901delinsGA	ENSP00000418960.2:p.Ser1634Asp
ENST00000478531.5:c.1525_1526delinsGA	ENSP00000420412.1:p.Ser509Asp
ENST00000484087.5:c.1150_1151delinsGA	ENSP00000419481.1:p.Ser384Asp
ENST00000491747.6:c.1525_1526delinsGA	ENSP00000420705.2:p.Ser509Asp
ENST00000493795.5:c.4696_4697delinsGA	ENSP00000418775.1:p.Ser1566Asp
ENST00000493919.5:c.1387_1388delinsGA	ENSP00000418819.1:p.Ser463Asp
ENST00000586385.5:c.5-7126_5-7125delinsGA	ENSP00000465818.1:n.5-7126_5-7125delinsGA...
ENST00000591534.5:c.310_311delinsGA	ENSP00000467329.1:p.Ser104Asp
ENST00000591849.5:c.-98-20887_-98-20886delinsGA	ENSP00000465347.1:n.-98-20887_-98-20886de...
NM_007294.3:c.4837_4838delinsGA , LRG_292t1:c.4837_4838delinsGA	NP_009225.1:p.Ser1613Asp
NM_007297.3:c.4696_4697delinsGA	NP_009228.2:p.Ser1566Asp
NM_007298.3:c.1525_1526delinsGA	NP_009229.2:p.Ser509Asp
NM_007299.3:c.1525_1526delinsGA	NP_009230.2:p.Ser509Asp
NM_007300.3:c.4900_4901delinsGA	NP_009231.2:p.Ser1634Asp
NR_027676.1:n.4973_4974delinsGA
NM_007294.4:c.4837_4838delinsGA MANE Select	NP_009225.1:p.Ser1613Asp
NM_007297.4:c.4696_4697delinsGA	NP_009228.2:p.Ser1566Asp
NM_007299.4:c.1525_1526delinsGA	NP_009230.2:p.Ser509Asp
NM_007300.4:c.4900_4901delinsGA	NP_009231.2:p.Ser1634Asp
NR_027676.2:n.5014_5015delinsGA