Canonical Allele Identifier: CA2573154063

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1413004
• ClinVar RCV Id: RCV001925657
• dbSNP Id: rs2154492556

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094740del , CM000679.2:g.43094740del	GRCh38
NC_000017.10:g.41246757del , CM000679.1:g.41246757del	GRCh37
NC_000017.9:g.38500283del	NCBI36
NG_005905.2:g.123244del , LRG_292:g.123244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.855del
ENST00000461574.2:c.791del	ENSP00000417241.2:p.Ser264IlefsTer?
ENST00000470026.6:c.791del	ENSP00000419274.2:p.Ser264IlefsTer?
ENST00000473961.6:c.665del	ENSP00000420201.2:p.Ser222IlefsTer?
ENST00000476777.6:c.788del	ENSP00000417554.2:p.Ser263IlefsTer?
ENST00000477152.6:c.713del	ENSP00000419988.2:p.Ser238IlefsTer?
ENST00000478531.6:c.784+4del	ENSP00000420412.2:n.784+4del
ENST00000489037.2:c.713del	ENSP00000420781.2:p.Ser238IlefsTer?
ENST00000493919.6:c.646+4del	ENSP00000418819.2:n.646+4del
ENST00000494123.6:c.791del	ENSP00000419103.2:p.Ser264IlefsTer?
ENST00000497488.2:c.-98del	ENSP00000418986.2:n.-98del
ENST00000618469.2:c.791del	ENSP00000478114.2:p.Ser264IlefsTer?
ENST00000634433.2:c.668del	ENSP00000489431.2:p.Ser223IlefsTer?
ENST00000644379.2:c.791del	ENSP00000496570.2:p.Ser264IlefsTer?
ENST00000644555.2:c.646+4del	ENSP00000494614.2:n.646+4del
ENST00000652672.2:c.650del	ENSP00000498906.2:p.Ser217IlefsTer?
ENST00000484087.6:c.664+4del	ENSP00000419481.2:n.664+4del
ENST00000700182.1:c.706+4del	ENSP00000514849.1:n.706+4del
ENST00000700183.1:c.*799del	ENSP00000514850.1:n.*799del
ENST00000357654.9:c.791del MANE Select	ENSP00000350283.3:p.Ser264IlefsTer?
ENST00000471181.7:c.791del	ENSP00000418960.2:p.Ser264IlefsTer?
ENST00000642945.1:c.*665del	ENSP00000495897.1:n.*665del
ENST00000652672.1:c.650del	ENSP00000498906.1:p.Ser217IlefsTer?
ENST00000352993.7:c.670+1106del	ENSP00000312236.5:n.670+1106del
ENST00000354071.7:c.791del	ENSP00000326002.7:p.Ser264IlefsTer?
ENST00000357654.7:c.791del	ENSP00000350283.3:p.Ser264IlefsTer?
ENST00000412061.3:c.142del
ENST00000461221.5:c.*574del	ENSP00000418548.1:n.*574del
ENST00000468300.5:c.787+4del	ENSP00000417148.1:n.787+4del
ENST00000470026.5:c.791del	ENSP00000419274.1:p.Ser264IlefsTer?
ENST00000471181.6:c.791del	ENSP00000418960.2:p.Ser264IlefsTer?
ENST00000473961.5:c.388del
ENST00000477152.5:c.713del	ENSP00000419988.1:p.Ser238IlefsTer?
ENST00000478531.5:c.784+4del	ENSP00000420412.1:n.784+4del
ENST00000484087.5:c.409+4del	ENSP00000419481.1:n.409+4del
ENST00000487825.5:c.412+4del	ENSP00000418212.1:n.412+4del
ENST00000491747.6:c.787+4del	ENSP00000420705.2:n.787+4del
ENST00000492859.5:c.*727del	ENSP00000420253.1:n.*727del
ENST00000493795.5:c.650del	ENSP00000418775.1:p.Ser217IlefsTer?
ENST00000493919.5:c.646+4del	ENSP00000418819.1:n.646+4del
ENST00000494123.5:c.791del	ENSP00000419103.1:p.Ser264IlefsTer?
ENST00000497488.1:c.-98del	ENSP00000418986.1:n.-98del
ENST00000586385.5:c.4+30442del	ENSP00000465818.1:n.4+30442del
ENST00000591534.5:c.-43-20219del	ENSP00000467329.1:n.-43-20219del
ENST00000591849.5:c.-99+30531del	ENSP00000465347.1:n.-99+30531del
ENST00000634433.1:c.668del	ENSP00000489431.1:p.Ser223IlefsTer?
NM_007294.3:c.791del , LRG_292t1:c.791del	NP_009225.1:p.Ser264IlefsTer?
NM_007297.3:c.650del	NP_009228.2:p.Ser217IlefsTer?
NM_007298.3:c.787+4del	NP_009229.2:n.787+4del
NM_007299.3:c.787+4del	NP_009230.2:n.787+4del
NM_007300.3:c.791del	NP_009231.2:p.Ser264IlefsTer?
NR_027676.1:n.927del
NM_007294.4:c.791del MANE Select	NP_009225.1:p.Ser264IlefsTer?
NM_007297.4:c.650del	NP_009228.2:p.Ser217IlefsTer?
NM_007299.4:c.787+4del	NP_009230.2:n.787+4del
NM_007300.4:c.791del	NP_009231.2:p.Ser264IlefsTer?
NR_027676.2:n.968del