Canonical Allele Identifier: CA2260782129

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091653_43091655delinsGCA , CM000679.2:g.43091653_43091655delinsGCA	GRCh38
NC_000017.10:g.41243670_41243672delinsGCA , CM000679.1:g.41243670_41243672delinsGCA	GRCh37
NC_000017.9:g.38497196_38497198delinsGCA	NCBI36
NG_005905.2:g.126329_126331delinsTGC , LRG_292:g.126329_126331delinsTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3940_3942delinsTGC
ENST00000461574.2:c.3876_3878delinsTGC	ENSP00000417241.2:p.Ser1292=
ENST00000470026.6:c.3876_3878delinsTGC	ENSP00000419274.2:p.Ser1292=
ENST00000473961.6:c.3750_3752delinsTGC	ENSP00000420201.2:p.Ser1250=
ENST00000476777.6:c.3873_3875delinsTGC	ENSP00000417554.2:p.Ser1291=
ENST00000477152.6:c.3798_3800delinsTGC	ENSP00000419988.2:p.Ser1266=
ENST00000478531.6:c.785-623_785-621delinsTGC	ENSP00000420412.2:n.785-623_785-621delins...
ENST00000489037.2:c.3798_3800delinsTGC	ENSP00000420781.2:p.Ser1266=
ENST00000493919.6:c.647-623_647-621delinsTGC	ENSP00000418819.2:n.647-623_647-621delins...
ENST00000494123.6:c.3876_3878delinsTGC	ENSP00000419103.2:p.Ser1292=
ENST00000497488.2:c.2988_2990delinsTGC	ENSP00000418986.2:p.Ser996=
ENST00000618469.2:c.3876_3878delinsTGC	ENSP00000478114.2:p.Ser1292=
ENST00000634433.2:c.3753_3755delinsTGC	ENSP00000489431.2:p.Ser1251=
ENST00000644379.2:c.3876_3878delinsTGC	ENSP00000496570.2:p.Ser1292=
ENST00000644555.2:c.647-623_647-621delinsTGC	ENSP00000494614.2:n.647-623_647-621delins...
ENST00000652672.2:c.3735_3737delinsTGC	ENSP00000498906.2:p.Ser1245=
ENST00000484087.6:c.665-623_665-621delinsTGC	ENSP00000419481.2:n.665-623_665-621delins...
ENST00000700182.1:c.707-623_707-621delinsTGC	ENSP00000514849.1:n.707-623_707-621delins...
ENST00000357654.9:c.3876_3878delinsTGC MANE Select	ENSP00000350283.3:p.Ser1292=
ENST00000471181.7:c.3876_3878delinsTGC	ENSP00000418960.2:p.Ser1292=
ENST00000644379.1:c.197_199delinsTGC
ENST00000352993.7:c.671-623_671-621delinsTGC	ENSP00000312236.5:n.671-623_671-621delins...
ENST00000354071.7:c.3876_3878delinsTGC	ENSP00000326002.7:p.Ser1292=
ENST00000357654.7:c.3876_3878delinsTGC	ENSP00000350283.3:p.Ser1292=
ENST00000461221.5:c.*3659_*3661delinsTGC	ENSP00000418548.1:n.*3659_*3661delinsTGC
ENST00000461574.1:c.170_172delinsTGC
ENST00000468300.5:c.788-623_788-621delinsTGC	ENSP00000417148.1:n.788-623_788-621delins...
ENST00000471181.6:c.3876_3878delinsTGC	ENSP00000418960.2:p.Ser1292=
ENST00000478531.5:c.785-623_785-621delinsTGC	ENSP00000420412.1:n.785-623_785-621delins...
ENST00000484087.5:c.410-623_410-621delinsTGC	ENSP00000419481.1:n.410-623_410-621delins...
ENST00000487825.5:c.413-623_413-621delinsTGC	ENSP00000418212.1:n.413-623_413-621delins...
ENST00000491747.6:c.788-623_788-621delinsTGC	ENSP00000420705.2:n.788-623_788-621delins...
ENST00000493795.5:c.3735_3737delinsTGC	ENSP00000418775.1:p.Ser1245=
ENST00000493919.5:c.647-623_647-621delinsTGC	ENSP00000418819.1:n.647-623_647-621delins...
ENST00000586385.5:c.5-27704_5-27702delinsTGC	ENSP00000465818.1:n.5-27704_5-27702delins...
ENST00000591534.5:c.-43-17134_-43-17132delinsTGC	ENSP00000467329.1:n.-43-17134_-43-17132de...
ENST00000591849.5:c.-99+33616_-99+33618delinsTGC	ENSP00000465347.1:n.-99+33616_-99+33618de...
NM_007294.3:c.3876_3878delinsTGC , LRG_292t1:c.3876_3878delinsTGC	NP_009225.1:p.Ser1292=
NM_007297.3:c.3735_3737delinsTGC	NP_009228.2:p.Ser1245=
NM_007298.3:c.788-623_788-621delinsTGC	NP_009229.2:n.788-623_788-621delinsTGC
NM_007299.3:c.788-623_788-621delinsTGC	NP_009230.2:n.788-623_788-621delinsTGC
NM_007300.3:c.3876_3878delinsTGC	NP_009231.2:p.Ser1292=
NR_027676.1:n.4012_4014delinsTGC
NM_007294.4:c.3876_3878delinsTGC MANE Select	NP_009225.1:p.Ser1292=
NM_007297.4:c.3735_3737delinsTGC	NP_009228.2:p.Ser1245=
NM_007299.4:c.788-623_788-621delinsTGC	NP_009230.2:n.788-623_788-621delinsTGC
NM_007300.4:c.3876_3878delinsTGC	NP_009231.2:p.Ser1292=
NR_027676.2:n.4053_4055delinsTGC