Canonical Allele Identifier: CA913190411

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091764_43091782del , CM000679.2:g.43091764_43091782del	GRCh38
NC_000017.10:g.41243781_41243799del , CM000679.1:g.41243781_41243799del	GRCh37
NC_000017.9:g.38497307_38497325del	NCBI36
NG_005905.2:g.126204_126222del , LRG_292:g.126204_126222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3815_3833del
ENST00000461574.2:c.3751_3769del	ENSP00000417241.2:p.Cys1251ArgfsTer7
ENST00000470026.6:c.3751_3769del	ENSP00000419274.2:p.Cys1251ArgfsTer7
ENST00000473961.6:c.3625_3643del	ENSP00000420201.2:p.Cys1209ArgfsTer7
ENST00000476777.6:c.3748_3766del	ENSP00000417554.2:p.Cys1250ArgfsTer7
ENST00000477152.6:c.3673_3691del	ENSP00000419988.2:p.Cys1225ArgfsTer7
ENST00000478531.6:c.785-748_785-730del	ENSP00000420412.2:n.785-748_785-730del
ENST00000489037.2:c.3673_3691del	ENSP00000420781.2:p.Cys1225ArgfsTer7
ENST00000493919.6:c.647-748_647-730del	ENSP00000418819.2:n.647-748_647-730del
ENST00000494123.6:c.3751_3769del	ENSP00000419103.2:p.Cys1251ArgfsTer7
ENST00000497488.2:c.2863_2881del	ENSP00000418986.2:p.Cys955ArgfsTer7
ENST00000618469.2:c.3751_3769del	ENSP00000478114.2:p.Cys1251ArgfsTer7
ENST00000634433.2:c.3628_3646del	ENSP00000489431.2:p.Cys1210ArgfsTer7
ENST00000644379.2:c.3751_3769del	ENSP00000496570.2:p.Cys1251ArgfsTer7
ENST00000644555.2:c.647-748_647-730del	ENSP00000494614.2:n.647-748_647-730del
ENST00000652672.2:c.3610_3628del	ENSP00000498906.2:p.Cys1204ArgfsTer7
ENST00000484087.6:c.665-748_665-730del	ENSP00000419481.2:n.665-748_665-730del
ENST00000700182.1:c.707-748_707-730del	ENSP00000514849.1:n.707-748_707-730del
ENST00000357654.9:c.3751_3769del MANE Select	ENSP00000350283.3:p.Cys1251ArgfsTer7
ENST00000471181.7:c.3751_3769del	ENSP00000418960.2:p.Cys1251ArgfsTer7
ENST00000644379.1:c.72_90del
ENST00000352993.7:c.671-748_671-730del	ENSP00000312236.5:n.671-748_671-730del
ENST00000354071.7:c.3751_3769del	ENSP00000326002.7:p.Cys1251ArgfsTer7
ENST00000357654.7:c.3751_3769del	ENSP00000350283.3:p.Cys1251ArgfsTer7
ENST00000461221.5:c.*3534_*3552del	ENSP00000418548.1:n.*3534_*3552del
ENST00000461574.1:c.45_63del
ENST00000468300.5:c.788-748_788-730del	ENSP00000417148.1:n.788-748_788-730del
ENST00000471181.6:c.3751_3769del	ENSP00000418960.2:p.Cys1251ArgfsTer7
ENST00000478531.5:c.785-748_785-730del	ENSP00000420412.1:n.785-748_785-730del
ENST00000484087.5:c.410-748_410-730del	ENSP00000419481.1:n.410-748_410-730del
ENST00000487825.5:c.413-748_413-730del	ENSP00000418212.1:n.413-748_413-730del
ENST00000491747.6:c.788-748_788-730del	ENSP00000420705.2:n.788-748_788-730del
ENST00000493795.5:c.3610_3628del	ENSP00000418775.1:p.Cys1204ArgfsTer7
ENST00000493919.5:c.647-748_647-730del	ENSP00000418819.1:n.647-748_647-730del
ENST00000586385.5:c.5-27829_5-27811del	ENSP00000465818.1:n.5-27829_5-27811del
ENST00000591534.5:c.-43-17259_-43-17241del	ENSP00000467329.1:n.-43-17259_-43-17241del
ENST00000591849.5:c.-99+33491_-99+33509del	ENSP00000465347.1:n.-99+33491_-99+33509del
NM_007294.3:c.3751_3769del , LRG_292t1:c.3751_3769del	NP_009225.1:p.Cys1251ArgfsTer7
NM_007297.3:c.3610_3628del	NP_009228.2:p.Cys1204ArgfsTer7
NM_007298.3:c.788-748_788-730del	NP_009229.2:n.788-748_788-730del
NM_007299.3:c.788-748_788-730del	NP_009230.2:n.788-748_788-730del
NM_007300.3:c.3751_3769del	NP_009231.2:p.Cys1251ArgfsTer7
NR_027676.1:n.3887_3905del
NM_007294.4:c.3751_3769del MANE Select	NP_009225.1:p.Cys1251ArgfsTer7
NM_007297.4:c.3610_3628del	NP_009228.2:p.Cys1204ArgfsTer7
NM_007299.4:c.788-748_788-730del	NP_009230.2:n.788-748_788-730del
NM_007300.4:c.3751_3769del	NP_009231.2:p.Cys1251ArgfsTer7
NR_027676.2:n.3928_3946del