Canonical Allele Identifier: CA10586120

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252892
• ClinVar RCV Id: RCV000238759 ; RCV003278724
• dbSNP Id: rs879255497
• MyVariant Identifiers: chr17:g.41246682_41246684del (hg19) ; chr17:g.43094665_43094667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094668_43094670del , CM000679.2:g.43094668_43094670del	GRCh38
NC_000017.10:g.41246685_41246687del , CM000679.1:g.41246685_41246687del	GRCh37
NC_000017.9:g.38500211_38500213del	NCBI36
NG_005905.2:g.123317_123319del , LRG_292:g.123317_123319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.928_930del
ENST00000461574.2:c.864_866del	ENSP00000417241.2:p.Ser289del
ENST00000470026.6:c.864_866del	ENSP00000419274.2:p.Ser289del
ENST00000473961.6:c.738_740del	ENSP00000420201.2:p.Ser247del
ENST00000476777.6:c.861_863del	ENSP00000417554.2:p.Ser288del
ENST00000477152.6:c.786_788del	ENSP00000419988.2:p.Ser263del
ENST00000478531.6:c.784+77_784+79del	ENSP00000420412.2:n.784+77_784+79del
ENST00000489037.2:c.786_788del	ENSP00000420781.2:p.Ser263del
ENST00000493919.6:c.646+77_646+79del	ENSP00000418819.2:n.646+77_646+79del
ENST00000494123.6:c.864_866del	ENSP00000419103.2:p.Ser289del
ENST00000497488.2:c.-25_-23del	ENSP00000418986.2:n.-25_-23del
ENST00000618469.2:c.864_866del	ENSP00000478114.2:p.Ser289del
ENST00000634433.2:c.741_743del	ENSP00000489431.2:p.Ser248del
ENST00000644379.2:c.864_866del	ENSP00000496570.2:p.Ser289del
ENST00000644555.2:c.646+77_646+79del	ENSP00000494614.2:n.646+77_646+79del
ENST00000652672.2:c.723_725del	ENSP00000498906.2:p.Ser242del
ENST00000484087.6:c.664+77_664+79del	ENSP00000419481.2:n.664+77_664+79del
ENST00000700182.1:c.706+77_706+79del	ENSP00000514849.1:n.706+77_706+79del
ENST00000700183.1:c.*872_*874del	ENSP00000514850.1:n.*872_*874del
ENST00000357654.9:c.864_866del MANE Select	ENSP00000350283.3:p.Ser289del
ENST00000471181.7:c.864_866del	ENSP00000418960.2:p.Ser289del
ENST00000642945.1:c.*738_*740del	ENSP00000495897.1:n.*738_*740del
ENST00000652672.1:c.723_725del	ENSP00000498906.1:p.Ser242del
ENST00000352993.7:c.670+1179_670+1181del	ENSP00000312236.5:n.670+1179_670+1181del
ENST00000354071.7:c.864_866del	ENSP00000326002.7:p.Ser289del
ENST00000357654.7:c.864_866del	ENSP00000350283.3:p.Ser289del
ENST00000412061.3:c.215_217del
ENST00000461221.5:c.*647_*649del	ENSP00000418548.1:n.*647_*649del
ENST00000468300.5:c.787+77_787+79del	ENSP00000417148.1:n.787+77_787+79del
ENST00000470026.5:c.864_866del	ENSP00000419274.1:p.Ser289del
ENST00000471181.6:c.864_866del	ENSP00000418960.2:p.Ser289del
ENST00000473961.5:c.461_463del
ENST00000477152.5:c.786_788del	ENSP00000419988.1:p.Ser263del
ENST00000478531.5:c.784+77_784+79del	ENSP00000420412.1:n.784+77_784+79del
ENST00000484087.5:c.409+77_409+79del	ENSP00000419481.1:n.409+77_409+79del
ENST00000487825.5:c.412+77_412+79del	ENSP00000418212.1:n.412+77_412+79del
ENST00000491747.6:c.787+77_787+79del	ENSP00000420705.2:n.787+77_787+79del
ENST00000492859.5:c.*800_*802del	ENSP00000420253.1:n.*800_*802del
ENST00000493795.5:c.723_725del	ENSP00000418775.1:p.Ser242del
ENST00000493919.5:c.646+77_646+79del	ENSP00000418819.1:n.646+77_646+79del
ENST00000494123.5:c.864_866del	ENSP00000419103.1:p.Ser289del
ENST00000497488.1:c.-25_-23del	ENSP00000418986.1:n.-25_-23del
ENST00000586385.5:c.4+30515_4+30517del	ENSP00000465818.1:n.4+30515_4+30517del
ENST00000591534.5:c.-43-20146_-43-20144del	ENSP00000467329.1:n.-43-20146_-43-20144del
ENST00000591849.5:c.-99+30604_-99+30606del	ENSP00000465347.1:n.-99+30604_-99+30606del
ENST00000634433.1:c.741_743del	ENSP00000489431.1:p.Ser248del
NM_007294.3:c.864_866del , LRG_292t1:c.864_866del	NP_009225.1:p.Ser289del
NM_007297.3:c.723_725del	NP_009228.2:p.Ser242del
NM_007298.3:c.787+77_787+79del	NP_009229.2:n.787+77_787+79del
NM_007299.3:c.787+77_787+79del	NP_009230.2:n.787+77_787+79del
NM_007300.3:c.864_866del	NP_009231.2:p.Ser289del
NR_027676.1:n.1000_1002del
NM_007294.4:c.864_866del MANE Select	NP_009225.1:p.Ser289del
NM_007297.4:c.723_725del	NP_009228.2:p.Ser242del
NM_007299.4:c.787+77_787+79del	NP_009230.2:n.787+77_787+79del
NM_007300.4:c.864_866del	NP_009231.2:p.Ser289del
NR_027676.2:n.1041_1043del