Canonical Allele Identifier: CA2580094264

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1735756
• ClinVar RCV Id: RCV002355652 ; RCV003126241

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091653_43091654delinsAA , CM000679.2:g.43091653_43091654delinsAA	GRCh38
NC_000017.10:g.41243670_41243671delinsAA , CM000679.1:g.41243670_41243671delinsAA	GRCh37
NC_000017.9:g.38497196_38497197delinsAA	NCBI36
NG_005905.2:g.126330_126331delinsTT , LRG_292:g.126330_126331delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3941_3942delinsTT
ENST00000461574.2:c.3877_3878delinsTT	ENSP00000417241.2:p.Ala1293Phe
ENST00000470026.6:c.3877_3878delinsTT	ENSP00000419274.2:p.Ala1293Phe
ENST00000473961.6:c.3751_3752delinsTT	ENSP00000420201.2:p.Ala1251Phe
ENST00000476777.6:c.3874_3875delinsTT	ENSP00000417554.2:p.Ala1292Phe
ENST00000477152.6:c.3799_3800delinsTT	ENSP00000419988.2:p.Ala1267Phe
ENST00000478531.6:c.785-622_785-621delinsTT	ENSP00000420412.2:n.785-622_785-621delinsTT
ENST00000489037.2:c.3799_3800delinsTT	ENSP00000420781.2:p.Ala1267Phe
ENST00000493919.6:c.647-622_647-621delinsTT	ENSP00000418819.2:n.647-622_647-621delinsTT
ENST00000494123.6:c.3877_3878delinsTT	ENSP00000419103.2:p.Ala1293Phe
ENST00000497488.2:c.2989_2990delinsTT	ENSP00000418986.2:p.Ala997Phe
ENST00000618469.2:c.3877_3878delinsTT	ENSP00000478114.2:p.Ala1293Phe
ENST00000634433.2:c.3754_3755delinsTT	ENSP00000489431.2:p.Ala1252Phe
ENST00000644379.2:c.3877_3878delinsTT	ENSP00000496570.2:p.Ala1293Phe
ENST00000644555.2:c.647-622_647-621delinsTT	ENSP00000494614.2:n.647-622_647-621delinsTT
ENST00000652672.2:c.3736_3737delinsTT	ENSP00000498906.2:p.Ala1246Phe
ENST00000484087.6:c.665-622_665-621delinsTT	ENSP00000419481.2:n.665-622_665-621delinsTT
ENST00000700182.1:c.707-622_707-621delinsTT	ENSP00000514849.1:n.707-622_707-621delinsTT
ENST00000357654.9:c.3877_3878delinsTT MANE Select	ENSP00000350283.3:p.Ala1293Phe
ENST00000471181.7:c.3877_3878delinsTT	ENSP00000418960.2:p.Ala1293Phe
ENST00000644379.1:c.198_199delinsTT
ENST00000352993.7:c.671-622_671-621delinsTT	ENSP00000312236.5:n.671-622_671-621delinsTT
ENST00000354071.7:c.3877_3878delinsTT	ENSP00000326002.7:p.Ala1293Phe
ENST00000357654.7:c.3877_3878delinsTT	ENSP00000350283.3:p.Ala1293Phe
ENST00000461221.5:c.*3660_*3661delinsTT	ENSP00000418548.1:n.*3660_*3661delinsTT
ENST00000461574.1:c.171_172delinsTT
ENST00000468300.5:c.788-622_788-621delinsTT	ENSP00000417148.1:n.788-622_788-621delinsTT
ENST00000471181.6:c.3877_3878delinsTT	ENSP00000418960.2:p.Ala1293Phe
ENST00000478531.5:c.785-622_785-621delinsTT	ENSP00000420412.1:n.785-622_785-621delinsTT
ENST00000484087.5:c.410-622_410-621delinsTT	ENSP00000419481.1:n.410-622_410-621delinsTT
ENST00000487825.5:c.413-622_413-621delinsTT	ENSP00000418212.1:n.413-622_413-621delinsTT
ENST00000491747.6:c.788-622_788-621delinsTT	ENSP00000420705.2:n.788-622_788-621delinsTT
ENST00000493795.5:c.3736_3737delinsTT	ENSP00000418775.1:p.Ala1246Phe
ENST00000493919.5:c.647-622_647-621delinsTT	ENSP00000418819.1:n.647-622_647-621delinsTT
ENST00000586385.5:c.5-27703_5-27702delinsTT	ENSP00000465818.1:n.5-27703_5-27702delinsTT
ENST00000591534.5:c.-43-17133_-43-17132delinsTT	ENSP00000467329.1:n.-43-17133_-43-17132delinsTT
ENST00000591849.5:c.-99+33617_-99+33618delinsTT	ENSP00000465347.1:n.-99+33617_-99+33618delinsTT
NM_007294.3:c.3877_3878delinsTT , LRG_292t1:c.3877_3878delinsTT	NP_009225.1:p.Ala1293Phe
NM_007297.3:c.3736_3737delinsTT	NP_009228.2:p.Ala1246Phe
NM_007298.3:c.788-622_788-621delinsTT	NP_009229.2:n.788-622_788-621delinsTT
NM_007299.3:c.788-622_788-621delinsTT	NP_009230.2:n.788-622_788-621delinsTT
NM_007300.3:c.3877_3878delinsTT	NP_009231.2:p.Ala1293Phe
NR_027676.1:n.4013_4014delinsTT
NM_007294.4:c.3877_3878delinsTT MANE Select	NP_009225.1:p.Ala1293Phe
NM_007297.4:c.3736_3737delinsTT	NP_009228.2:p.Ala1246Phe
NM_007299.4:c.788-622_788-621delinsTT	NP_009230.2:n.788-622_788-621delinsTT
NM_007300.4:c.3877_3878delinsTT	NP_009231.2:p.Ala1293Phe
NR_027676.2:n.4054_4055delinsTT