Canonical Allele Identifier: CA2573154039

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1417831
• ClinVar RCV Id: RCV001940272
• dbSNP Id: rs2154384493

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093226_43093227del , CM000679.2:g.43093226_43093227del	GRCh38
NC_000017.10:g.41245243_41245244del , CM000679.1:g.41245243_41245244del	GRCh37
NC_000017.9:g.38498769_38498770del	NCBI36
NG_005905.2:g.124758_124759del , LRG_292:g.124758_124759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2369_2370del
ENST00000461574.2:c.2305_2306del	ENSP00000417241.2:p.Ile769PhefsTer7
ENST00000470026.6:c.2305_2306del	ENSP00000419274.2:p.Ile769PhefsTer7
ENST00000473961.6:c.2179_2180del	ENSP00000420201.2:p.Ile727PhefsTer7
ENST00000476777.6:c.2302_2303del	ENSP00000417554.2:p.Ile768PhefsTer7
ENST00000477152.6:c.2227_2228del	ENSP00000419988.2:p.Ile743PhefsTer7
ENST00000478531.6:c.784+1518_784+1519del	ENSP00000420412.2:n.784+1518_784+1519del
ENST00000489037.2:c.2227_2228del	ENSP00000420781.2:p.Ile743PhefsTer7
ENST00000493919.6:c.646+1518_646+1519del	ENSP00000418819.2:n.646+1518_646+1519del
ENST00000494123.6:c.2305_2306del	ENSP00000419103.2:p.Ile769PhefsTer7
ENST00000497488.2:c.1417_1418del	ENSP00000418986.2:p.Ile473PhefsTer7
ENST00000618469.2:c.2305_2306del	ENSP00000478114.2:p.Ile769PhefsTer7
ENST00000634433.2:c.2182_2183del	ENSP00000489431.2:p.Ile728PhefsTer7
ENST00000644379.2:c.2305_2306del	ENSP00000496570.2:p.Ile769PhefsTer7
ENST00000644555.2:c.646+1518_646+1519del	ENSP00000494614.2:n.646+1518_646+1519del
ENST00000652672.2:c.2164_2165del	ENSP00000498906.2:p.Ile722PhefsTer7
ENST00000484087.6:c.664+1518_664+1519del	ENSP00000419481.2:n.664+1518_664+1519del
ENST00000700182.1:c.706+1518_706+1519del	ENSP00000514849.1:n.706+1518_706+1519del
ENST00000357654.9:c.2305_2306del MANE Select	ENSP00000350283.3:p.Ile769PhefsTer7
ENST00000471181.7:c.2305_2306del	ENSP00000418960.2:p.Ile769PhefsTer7
ENST00000352993.7:c.671-2194_671-2193del	ENSP00000312236.5:n.671-2194_671-2193del
ENST00000354071.7:c.2305_2306del	ENSP00000326002.7:p.Ile769PhefsTer7
ENST00000357654.7:c.2305_2306del	ENSP00000350283.3:p.Ile769PhefsTer7
ENST00000461221.5:c.*2088_*2089del	ENSP00000418548.1:n.*2088_*2089del
ENST00000468300.5:c.787+1518_787+1519del	ENSP00000417148.1:n.787+1518_787+1519del
ENST00000471181.6:c.2305_2306del	ENSP00000418960.2:p.Ile769PhefsTer7
ENST00000478531.5:c.784+1518_784+1519del	ENSP00000420412.1:n.784+1518_784+1519del
ENST00000484087.5:c.409+1518_409+1519del	ENSP00000419481.1:n.409+1518_409+1519del
ENST00000487825.5:c.412+1518_412+1519del	ENSP00000418212.1:n.412+1518_412+1519del
ENST00000491747.6:c.787+1518_787+1519del	ENSP00000420705.2:n.787+1518_787+1519del
ENST00000493795.5:c.2164_2165del	ENSP00000418775.1:p.Ile722PhefsTer7
ENST00000493919.5:c.646+1518_646+1519del	ENSP00000418819.1:n.646+1518_646+1519del
ENST00000586385.5:c.5-29275_5-29274del	ENSP00000465818.1:n.5-29275_5-29274del
ENST00000591534.5:c.-43-18705_-43-18704del	ENSP00000467329.1:n.-43-18705_-43-18704del
ENST00000591849.5:c.-99+32045_-99+32046del	ENSP00000465347.1:n.-99+32045_-99+32046del
ENST00000634433.1:c.2182_2183del	ENSP00000489431.1:p.Ile728PhefsTer7
NM_007294.3:c.2305_2306del , LRG_292t1:c.2305_2306del	NP_009225.1:p.Ile769PhefsTer7
NM_007297.3:c.2164_2165del	NP_009228.2:p.Ile722PhefsTer7
NM_007298.3:c.787+1518_787+1519del	NP_009229.2:n.787+1518_787+1519del
NM_007299.3:c.787+1518_787+1519del	NP_009230.2:n.787+1518_787+1519del
NM_007300.3:c.2305_2306del	NP_009231.2:p.Ile769PhefsTer7
NR_027676.1:n.2441_2442del
NM_007294.4:c.2305_2306del MANE Select	NP_009225.1:p.Ile769PhefsTer7
NM_007297.4:c.2164_2165del	NP_009228.2:p.Ile722PhefsTer7
NM_007299.4:c.787+1518_787+1519del	NP_009230.2:n.787+1518_787+1519del
NM_007300.4:c.2305_2306del	NP_009231.2:p.Ile769PhefsTer7
NR_027676.2:n.2482_2483del