Canonical Allele Identifier: CA3050533185

Gene: BRCA1

Linked Data - Expert Curation

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090983_43090984delinsTT , CM000679.2:g.43090983_43090984delinsTT	GRCh38
NC_000017.10:g.41243000_41243001delinsTT , CM000679.1:g.41243000_41243001delinsTT	GRCh37
NC_000017.9:g.38496526_38496527delinsTT	NCBI36
NG_005905.2:g.127000_127001delinsAA , LRG_292:g.127000_127001delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4145_4146delinsAA	ENSP00000417241.2:p.Cys1382Ter
ENST00000470026.6:c.4145_4146delinsAA	ENSP00000419274.2:p.Cys1382Ter
ENST00000473961.6:c.4019_4020delinsAA	ENSP00000420201.2:p.Cys1340Ter
ENST00000476777.6:c.4142_4143delinsAA	ENSP00000417554.2:p.Cys1381Ter
ENST00000477152.6:c.4067_4068delinsAA	ENSP00000419988.2:p.Cys1356Ter
ENST00000478531.6:c.833_834delinsAA	ENSP00000420412.2:p.Cys278Ter
ENST00000489037.2:c.4067_4068delinsAA	ENSP00000420781.2:p.Cys1356Ter
ENST00000493919.6:c.695_696delinsAA	ENSP00000418819.2:p.Cys232Ter
ENST00000494123.6:c.4145_4146delinsAA	ENSP00000419103.2:p.Cys1382Ter
ENST00000497488.2:c.3257_3258delinsAA	ENSP00000418986.2:p.Cys1086Ter
ENST00000618469.2:c.4145_4146delinsAA	ENSP00000478114.2:p.Cys1382Ter
ENST00000634433.2:c.4022_4023delinsAA	ENSP00000489431.2:p.Cys1341Ter
ENST00000644379.2:c.4145_4146delinsAA	ENSP00000496570.2:p.Cys1382Ter
ENST00000644555.2:c.695_696delinsAA	ENSP00000494614.2:p.Cys232Ter
ENST00000652672.2:c.4004_4005delinsAA	ENSP00000498906.2:p.Cys1335Ter
ENST00000484087.6:c.713_714delinsAA	ENSP00000419481.2:p.Cys238Ter
ENST00000700182.1:c.755_756delinsAA	ENSP00000514849.1:p.Cys252Ter
ENST00000357654.9:c.4145_4146delinsAA MANE Select	ENSP00000350283.3:p.Cys1382Ter
ENST00000471181.7:c.4145_4146delinsAA	ENSP00000418960.2:p.Cys1382Ter
ENST00000644379.1:c.466_467delinsAA
ENST00000352993.7:c.719_720delinsAA	ENSP00000312236.5:p.Cys240Ter
ENST00000357654.7:c.4145_4146delinsAA	ENSP00000350283.3:p.Cys1382Ter
ENST00000461221.5:c.*3928_*3929delinsAA	ENSP00000418548.1:n.*3928_*3929delinsAA
ENST00000461574.1:c.439_440delinsAA
ENST00000468300.5:c.836_837delinsAA	ENSP00000417148.1:p.Cys279Ter
ENST00000471181.6:c.4145_4146delinsAA	ENSP00000418960.2:p.Cys1382Ter
ENST00000478531.5:c.833_834delinsAA	ENSP00000420412.1:p.Cys278Ter
ENST00000484087.5:c.458_459delinsAA	ENSP00000419481.1:p.Cys153Ter
ENST00000487825.5:c.461_462delinsAA	ENSP00000418212.1:p.Cys154Ter
ENST00000491747.6:c.836_837delinsAA	ENSP00000420705.2:p.Cys279Ter
ENST00000493795.5:c.4004_4005delinsAA	ENSP00000418775.1:p.Cys1335Ter
ENST00000493919.5:c.695_696delinsAA	ENSP00000418819.1:p.Cys232Ter
ENST00000586385.5:c.5-27033_5-27032delinsAA	ENSP00000465818.1:n.5-27033_5-27032delinsAA
ENST00000591534.5:c.-43-16463_-43-16462delinsAA	ENSP00000467329.1:n.-43-16463_-43-16462delinsAA
ENST00000591849.5:c.-99+34287_-99+34288delinsAA	ENSP00000465347.1:n.-99+34287_-99+34288delinsAA
NM_007294.3:c.4145_4146delinsAA , LRG_292t1:c.4145_4146delinsAA	NP_009225.1:p.Cys1382Ter
NM_007297.3:c.4004_4005delinsAA	NP_009228.2:p.Cys1335Ter
NM_007298.3:c.836_837delinsAA	NP_009229.2:p.Cys279Ter
NM_007299.3:c.836_837delinsAA	NP_009230.2:p.Cys279Ter
NM_007300.3:c.4145_4146delinsAA	NP_009231.2:p.Cys1382Ter
NR_027676.1:n.4281_4282delinsAA
NM_007294.4:c.4145_4146delinsAA MANE Select	NP_009225.1:p.Cys1382Ter
NM_007297.4:c.4004_4005delinsAA	NP_009228.2:p.Cys1335Ter
NM_007299.4:c.836_837delinsAA	NP_009230.2:p.Cys279Ter
NM_007300.4:c.4145_4146delinsAA	NP_009231.2:p.Cys1382Ter
NR_027676.2:n.4322_4323delinsAA