Canonical Allele Identifier: CA913188877

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 628272
• ClinVar RCV Id: RCV000772622
• dbSNP Id: rs1567799598

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094080_43094094del , CM000679.2:g.43094080_43094094del	GRCh38
NC_000017.10:g.41246097_41246111del , CM000679.1:g.41246097_41246111del	GRCh37
NC_000017.9:g.38499623_38499637del	NCBI36
NG_005905.2:g.123891_123905del , LRG_292:g.123891_123905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1502_1516del
ENST00000461574.2:c.1438_1452del	ENSP00000417241.2:p.Asn480_Gly484del
ENST00000470026.6:c.1438_1452del	ENSP00000419274.2:p.Asn480_Gly484del
ENST00000473961.6:c.1312_1326del	ENSP00000420201.2:p.Asn438_Gly442del
ENST00000476777.6:c.1435_1449del	ENSP00000417554.2:p.Asn479_Gly483del
ENST00000477152.6:c.1360_1374del	ENSP00000419988.2:p.Asn454_Gly458del
ENST00000478531.6:c.784+651_784+665del	ENSP00000420412.2:n.784+651_784+665del
ENST00000489037.2:c.1360_1374del	ENSP00000420781.2:p.Asn454_Gly458del
ENST00000493919.6:c.646+651_646+665del	ENSP00000418819.2:n.646+651_646+665del
ENST00000494123.6:c.1438_1452del	ENSP00000419103.2:p.Asn480_Gly484del
ENST00000497488.2:c.550_564del	ENSP00000418986.2:p.Asn184_Gly188del
ENST00000618469.2:c.1438_1452del	ENSP00000478114.2:p.Asn480_Gly484del
ENST00000634433.2:c.1315_1329del	ENSP00000489431.2:p.Asn439_Gly443del
ENST00000644379.2:c.1438_1452del	ENSP00000496570.2:p.Asn480_Gly484del
ENST00000644555.2:c.646+651_646+665del	ENSP00000494614.2:n.646+651_646+665del
ENST00000652672.2:c.1297_1311del	ENSP00000498906.2:p.Asn433_Gly437del
ENST00000484087.6:c.664+651_664+665del	ENSP00000419481.2:n.664+651_664+665del
ENST00000700182.1:c.706+651_706+665del	ENSP00000514849.1:n.706+651_706+665del
ENST00000700183.1:c.*1446_*1460del	ENSP00000514850.1:n.*1446_*1460del
ENST00000357654.9:c.1438_1452del MANE Select	ENSP00000350283.3:p.Asn480_Gly484del
ENST00000471181.7:c.1438_1452del	ENSP00000418960.2:p.Asn480_Gly484del
ENST00000652672.1:c.1297_1311del	ENSP00000498906.1:p.Asn433_Gly437del
ENST00000352993.7:c.670+1753_670+1767del	ENSP00000312236.5:n.670+1753_670+1767del
ENST00000354071.7:c.1438_1452del	ENSP00000326002.7:p.Asn480_Gly484del
ENST00000357654.7:c.1438_1452del	ENSP00000350283.3:p.Asn480_Gly484del
ENST00000412061.3:c.789_803del
ENST00000461221.5:c.*1221_*1235del	ENSP00000418548.1:n.*1221_*1235del
ENST00000468300.5:c.787+651_787+665del	ENSP00000417148.1:n.787+651_787+665del
ENST00000470026.5:c.1438_1452del	ENSP00000419274.1:p.Asn480_Gly484del
ENST00000471181.6:c.1438_1452del	ENSP00000418960.2:p.Asn480_Gly484del
ENST00000477152.5:c.1360_1374del	ENSP00000419988.1:p.Asn454_Gly458del
ENST00000478531.5:c.784+651_784+665del	ENSP00000420412.1:n.784+651_784+665del
ENST00000484087.5:c.409+651_409+665del	ENSP00000419481.1:n.409+651_409+665del
ENST00000487825.5:c.412+651_412+665del	ENSP00000418212.1:n.412+651_412+665del
ENST00000491747.6:c.787+651_787+665del	ENSP00000420705.2:n.787+651_787+665del
ENST00000493795.5:c.1297_1311del	ENSP00000418775.1:p.Asn433_Gly437del
ENST00000493919.5:c.646+651_646+665del	ENSP00000418819.1:n.646+651_646+665del
ENST00000586385.5:c.5-30142_5-30128del	ENSP00000465818.1:n.5-30142_5-30128del
ENST00000591534.5:c.-43-19572_-43-19558del	ENSP00000467329.1:n.-43-19572_-43-19558del
ENST00000591849.5:c.-99+31178_-99+31192del	ENSP00000465347.1:n.-99+31178_-99+31192del
ENST00000634433.1:c.1315_1329del	ENSP00000489431.1:p.Asn439_Gly443del
NM_007294.3:c.1438_1452del , LRG_292t1:c.1438_1452del	NP_009225.1:p.Asn480_Gly484del
NM_007297.3:c.1297_1311del	NP_009228.2:p.Asn433_Gly437del
NM_007298.3:c.787+651_787+665del	NP_009229.2:n.787+651_787+665del
NM_007299.3:c.787+651_787+665del	NP_009230.2:n.787+651_787+665del
NM_007300.3:c.1438_1452del	NP_009231.2:p.Asn480_Gly484del
NR_027676.1:n.1574_1588del
NM_007294.4:c.1438_1452del MANE Select	NP_009225.1:p.Asn480_Gly484del
NM_007297.4:c.1297_1311del	NP_009228.2:p.Asn433_Gly437del
NM_007299.4:c.787+651_787+665del	NP_009230.2:n.787+651_787+665del
NM_007300.4:c.1438_1452del	NP_009231.2:p.Asn480_Gly484del
NR_027676.2:n.1615_1629del