Canonical Allele Identifier: CA10589922

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266184
• ClinVar RCV Id: RCV000256977 ; RCV001049300
• dbSNP Id: rs886039965
• MyVariant Identifiers: chr17:g.41245793_41245799del (hg19) ; chr17:g.43093776_43093782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093779_43093785del , CM000679.2:g.43093779_43093785del	GRCh38
NC_000017.10:g.41245796_41245802del , CM000679.1:g.41245796_41245802del	GRCh37
NC_000017.9:g.38499322_38499328del	NCBI36
NG_005905.2:g.124202_124208del , LRG_292:g.124202_124208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1813_1819del
ENST00000461574.2:c.1749_1755del	ENSP00000417241.2:p.Lys583AsnfsTer3
ENST00000470026.6:c.1749_1755del	ENSP00000419274.2:p.Lys583AsnfsTer3
ENST00000473961.6:c.1623_1629del	ENSP00000420201.2:p.Lys541AsnfsTer3
ENST00000476777.6:c.1746_1752del	ENSP00000417554.2:p.Lys582AsnfsTer3
ENST00000477152.6:c.1671_1677del	ENSP00000419988.2:p.Lys557AsnfsTer3
ENST00000478531.6:c.784+962_784+968del	ENSP00000420412.2:n.784+962_784+968del
ENST00000489037.2:c.1671_1677del	ENSP00000420781.2:p.Lys557AsnfsTer3
ENST00000493919.6:c.646+962_646+968del	ENSP00000418819.2:n.646+962_646+968del
ENST00000494123.6:c.1749_1755del	ENSP00000419103.2:p.Lys583AsnfsTer3
ENST00000497488.2:c.861_867del	ENSP00000418986.2:p.Lys287AsnfsTer3
ENST00000618469.2:c.1749_1755del	ENSP00000478114.2:p.Lys583AsnfsTer3
ENST00000634433.2:c.1626_1632del	ENSP00000489431.2:p.Lys542AsnfsTer3
ENST00000644379.2:c.1749_1755del	ENSP00000496570.2:p.Lys583AsnfsTer3
ENST00000644555.2:c.646+962_646+968del	ENSP00000494614.2:n.646+962_646+968del
ENST00000652672.2:c.1608_1614del	ENSP00000498906.2:p.Lys536AsnfsTer3
ENST00000484087.6:c.664+962_664+968del	ENSP00000419481.2:n.664+962_664+968del
ENST00000700182.1:c.706+962_706+968del	ENSP00000514849.1:n.706+962_706+968del
ENST00000357654.9:c.1749_1755del MANE Select	ENSP00000350283.3:p.Lys583AsnfsTer3
ENST00000471181.7:c.1749_1755del	ENSP00000418960.2:p.Lys583AsnfsTer3
ENST00000652672.1:c.1608_1614del	ENSP00000498906.1:p.Lys536AsnfsTer3
ENST00000352993.7:c.670+2064_670+2070del	ENSP00000312236.5:n.670+2064_670+2070del
ENST00000354071.7:c.1749_1755del	ENSP00000326002.7:p.Lys583AsnfsTer3
ENST00000357654.7:c.1749_1755del	ENSP00000350283.3:p.Lys583AsnfsTer3
ENST00000412061.3:c.1100_1106del
ENST00000461221.5:c.*1532_*1538del	ENSP00000418548.1:n.*1532_*1538del
ENST00000468300.5:c.787+962_787+968del	ENSP00000417148.1:n.787+962_787+968del
ENST00000470026.5:c.1749_1755del	ENSP00000419274.1:p.Lys583AsnfsTer3
ENST00000471181.6:c.1749_1755del	ENSP00000418960.2:p.Lys583AsnfsTer3
ENST00000477152.5:c.1671_1677del	ENSP00000419988.1:p.Lys557AsnfsTer3
ENST00000478531.5:c.784+962_784+968del	ENSP00000420412.1:n.784+962_784+968del
ENST00000484087.5:c.409+962_409+968del	ENSP00000419481.1:n.409+962_409+968del
ENST00000487825.5:c.412+962_412+968del	ENSP00000418212.1:n.412+962_412+968del
ENST00000491747.6:c.787+962_787+968del	ENSP00000420705.2:n.787+962_787+968del
ENST00000493795.5:c.1608_1614del	ENSP00000418775.1:p.Lys536AsnfsTer3
ENST00000493919.5:c.646+962_646+968del	ENSP00000418819.1:n.646+962_646+968del
ENST00000586385.5:c.5-29831_5-29825del	ENSP00000465818.1:n.5-29831_5-29825del
ENST00000591534.5:c.-43-19261_-43-19255del	ENSP00000467329.1:n.-43-19261_-43-19255del
ENST00000591849.5:c.-99+31489_-99+31495del	ENSP00000465347.1:n.-99+31489_-99+31495del
ENST00000634433.1:c.1626_1632del	ENSP00000489431.1:p.Lys542AsnfsTer3
NM_007294.3:c.1749_1755del , LRG_292t1:c.1749_1755del	NP_009225.1:p.Lys583AsnfsTer3
NM_007297.3:c.1608_1614del	NP_009228.2:p.Lys536AsnfsTer3
NM_007298.3:c.787+962_787+968del	NP_009229.2:n.787+962_787+968del
NM_007299.3:c.787+962_787+968del	NP_009230.2:n.787+962_787+968del
NM_007300.3:c.1749_1755del	NP_009231.2:p.Lys583AsnfsTer3
NR_027676.1:n.1885_1891del
NM_007294.4:c.1749_1755del MANE Select	NP_009225.1:p.Lys583AsnfsTer3
NM_007297.4:c.1608_1614del	NP_009228.2:p.Lys536AsnfsTer3
NM_007299.4:c.787+962_787+968del	NP_009230.2:n.787+962_787+968del
NM_007300.4:c.1749_1755del	NP_009231.2:p.Lys583AsnfsTer3
NR_027676.2:n.1926_1932del