Canonical Allele Identifier: CA001568

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54544
• ClinVar RCV Id: RCV000111831 ; RCV000496601 ; RCV001176763 ; RCV001539163
• dbSNP Id: rs80357820
• MyVariant Identifiers: chr17:g.41245191_41245197del (hg19) ; chr17:g.43093174_43093180del (hg38)
• PubMed: PMID:17574839

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093176_43093182del , CM000679.2:g.43093176_43093182del	GRCh38
NC_000017.10:g.41245193_41245199del , CM000679.1:g.41245193_41245199del	GRCh37
NC_000017.9:g.38498719_38498725del	NCBI36
NG_005905.2:g.124804_124810del , LRG_292:g.124804_124810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2415_2421del
ENST00000461574.2:c.2351_2357del	ENSP00000417241.2:p.Ser784TrpfsTer6
ENST00000470026.6:c.2351_2357del	ENSP00000419274.2:p.Ser784TrpfsTer6
ENST00000473961.6:c.2225_2231del	ENSP00000420201.2:p.Ser742TrpfsTer6
ENST00000476777.6:c.2348_2354del	ENSP00000417554.2:p.Ser783TrpfsTer6
ENST00000477152.6:c.2273_2279del	ENSP00000419988.2:p.Ser758TrpfsTer6
ENST00000478531.6:c.784+1564_784+1570del	ENSP00000420412.2:n.784+1564_784+1570del
ENST00000489037.2:c.2273_2279del	ENSP00000420781.2:p.Ser758TrpfsTer6
ENST00000493919.6:c.646+1564_646+1570del	ENSP00000418819.2:n.646+1564_646+1570del
ENST00000494123.6:c.2351_2357del	ENSP00000419103.2:p.Ser784TrpfsTer6
ENST00000497488.2:c.1463_1469del	ENSP00000418986.2:p.Ser488TrpfsTer6
ENST00000618469.2:c.2351_2357del	ENSP00000478114.2:p.Ser784TrpfsTer6
ENST00000634433.2:c.2228_2234del	ENSP00000489431.2:p.Ser743TrpfsTer6
ENST00000644379.2:c.2351_2357del	ENSP00000496570.2:p.Ser784TrpfsTer6
ENST00000644555.2:c.646+1564_646+1570del	ENSP00000494614.2:n.646+1564_646+1570del
ENST00000652672.2:c.2210_2216del	ENSP00000498906.2:p.Ser737TrpfsTer6
ENST00000484087.6:c.664+1564_664+1570del	ENSP00000419481.2:n.664+1564_664+1570del
ENST00000700182.1:c.706+1564_706+1570del	ENSP00000514849.1:n.706+1564_706+1570del
ENST00000357654.9:c.2351_2357del MANE Select	ENSP00000350283.3:p.Ser784TrpfsTer6
ENST00000471181.7:c.2351_2357del	ENSP00000418960.2:p.Ser784TrpfsTer6
ENST00000352993.7:c.671-2148_671-2142del	ENSP00000312236.5:n.671-2148_671-2142del
ENST00000354071.7:c.2351_2357del	ENSP00000326002.7:p.Ser784TrpfsTer6
ENST00000357654.7:c.2351_2357del	ENSP00000350283.3:p.Ser784TrpfsTer6
ENST00000461221.5:c.*2134_*2140del	ENSP00000418548.1:n.*2134_*2140del
ENST00000468300.5:c.787+1564_787+1570del	ENSP00000417148.1:n.787+1564_787+1570del
ENST00000471181.6:c.2351_2357del	ENSP00000418960.2:p.Ser784TrpfsTer6
ENST00000478531.5:c.784+1564_784+1570del	ENSP00000420412.1:n.784+1564_784+1570del
ENST00000484087.5:c.409+1564_409+1570del	ENSP00000419481.1:n.409+1564_409+1570del
ENST00000487825.5:c.412+1564_412+1570del	ENSP00000418212.1:n.412+1564_412+1570del
ENST00000491747.6:c.787+1564_787+1570del	ENSP00000420705.2:n.787+1564_787+1570del
ENST00000493795.5:c.2210_2216del	ENSP00000418775.1:p.Ser737TrpfsTer6
ENST00000493919.5:c.646+1564_646+1570del	ENSP00000418819.1:n.646+1564_646+1570del
ENST00000586385.5:c.5-29229_5-29223del	ENSP00000465818.1:n.5-29229_5-29223del
ENST00000591534.5:c.-43-18659_-43-18653del	ENSP00000467329.1:n.-43-18659_-43-18653del
ENST00000591849.5:c.-99+32091_-99+32097del	ENSP00000465347.1:n.-99+32091_-99+32097del
ENST00000634433.1:c.2228_2234del	ENSP00000489431.1:p.Ser743TrpfsTer6
NM_007294.3:c.2351_2357del , LRG_292t1:c.2351_2357del	NP_009225.1:p.Ser784TrpfsTer6
NM_007297.3:c.2210_2216del	NP_009228.2:p.Ser737TrpfsTer6
NM_007298.3:c.787+1564_787+1570del	NP_009229.2:n.787+1564_787+1570del
NM_007299.3:c.787+1564_787+1570del	NP_009230.2:n.787+1564_787+1570del
NM_007300.3:c.2351_2357del	NP_009231.2:p.Ser784TrpfsTer6
NR_027676.1:n.2487_2493del
NM_007294.4:c.2351_2357del MANE Select	NP_009225.1:p.Ser784TrpfsTer6
NM_007297.4:c.2210_2216del	NP_009228.2:p.Ser737TrpfsTer6
NM_007299.4:c.787+1564_787+1570del	NP_009230.2:n.787+1564_787+1570del
NM_007300.4:c.2351_2357del	NP_009231.2:p.Ser784TrpfsTer6
NR_027676.2:n.2528_2534del