Canonical Allele Identifier: CA10589934

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266170
• ClinVar RCV Id: RCV000257215 ; RCV001389315 ; RCV000509833
• dbSNP Id: rs886039955
• MyVariant Identifiers: chr17:g.41246041_41246044del (hg19) ; chr17:g.43094024_43094027del (hg38)
• PubMed: PMID:23961350

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094026_43094029del , CM000679.2:g.43094026_43094029del	GRCh38
NC_000017.10:g.41246043_41246046del , CM000679.1:g.41246043_41246046del	GRCh37
NC_000017.9:g.38499569_38499572del	NCBI36
NG_005905.2:g.123957_123960del , LRG_292:g.123957_123960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1568_1571del
ENST00000461574.2:c.1504_1507del	ENSP00000417241.2:p.Leu502SerfsTer29
ENST00000470026.6:c.1504_1507del	ENSP00000419274.2:p.Leu502SerfsTer29
ENST00000473961.6:c.1378_1381del	ENSP00000420201.2:p.Leu460SerfsTer29
ENST00000476777.6:c.1501_1504del	ENSP00000417554.2:p.Leu501SerfsTer29
ENST00000477152.6:c.1426_1429del	ENSP00000419988.2:p.Leu476SerfsTer29
ENST00000478531.6:c.784+717_784+720del	ENSP00000420412.2:n.784+717_784+720del
ENST00000489037.2:c.1426_1429del	ENSP00000420781.2:p.Leu476SerfsTer29
ENST00000493919.6:c.646+717_646+720del	ENSP00000418819.2:n.646+717_646+720del
ENST00000494123.6:c.1504_1507del	ENSP00000419103.2:p.Leu502SerfsTer29
ENST00000497488.2:c.616_619del	ENSP00000418986.2:p.Leu206SerfsTer29
ENST00000618469.2:c.1504_1507del	ENSP00000478114.2:p.Leu502SerfsTer29
ENST00000634433.2:c.1381_1384del	ENSP00000489431.2:p.Leu461SerfsTer29
ENST00000644379.2:c.1504_1507del	ENSP00000496570.2:p.Leu502SerfsTer29
ENST00000644555.2:c.646+717_646+720del	ENSP00000494614.2:n.646+717_646+720del
ENST00000652672.2:c.1363_1366del	ENSP00000498906.2:p.Leu455SerfsTer29
ENST00000484087.6:c.664+717_664+720del	ENSP00000419481.2:n.664+717_664+720del
ENST00000700182.1:c.706+717_706+720del	ENSP00000514849.1:n.706+717_706+720del
ENST00000357654.9:c.1504_1507del MANE Select	ENSP00000350283.3:p.Leu502SerfsTer29
ENST00000471181.7:c.1504_1507del	ENSP00000418960.2:p.Leu502SerfsTer29
ENST00000652672.1:c.1363_1366del	ENSP00000498906.1:p.Leu455SerfsTer29
ENST00000352993.7:c.670+1819_670+1822del	ENSP00000312236.5:n.670+1819_670+1822del
ENST00000354071.7:c.1504_1507del	ENSP00000326002.7:p.Leu502SerfsTer29
ENST00000357654.7:c.1504_1507del	ENSP00000350283.3:p.Leu502SerfsTer29
ENST00000412061.3:c.855_858del
ENST00000461221.5:c.*1287_*1290del	ENSP00000418548.1:n.*1287_*1290del
ENST00000468300.5:c.787+717_787+720del	ENSP00000417148.1:n.787+717_787+720del
ENST00000470026.5:c.1504_1507del	ENSP00000419274.1:p.Leu502SerfsTer29
ENST00000471181.6:c.1504_1507del	ENSP00000418960.2:p.Leu502SerfsTer29
ENST00000477152.5:c.1426_1429del	ENSP00000419988.1:p.Leu476SerfsTer29
ENST00000478531.5:c.784+717_784+720del	ENSP00000420412.1:n.784+717_784+720del
ENST00000484087.5:c.409+717_409+720del	ENSP00000419481.1:n.409+717_409+720del
ENST00000487825.5:c.412+717_412+720del	ENSP00000418212.1:n.412+717_412+720del
ENST00000491747.6:c.787+717_787+720del	ENSP00000420705.2:n.787+717_787+720del
ENST00000493795.5:c.1363_1366del	ENSP00000418775.1:p.Leu455SerfsTer29
ENST00000493919.5:c.646+717_646+720del	ENSP00000418819.1:n.646+717_646+720del
ENST00000586385.5:c.5-30076_5-30073del	ENSP00000465818.1:n.5-30076_5-30073del
ENST00000591534.5:c.-43-19506_-43-19503del	ENSP00000467329.1:n.-43-19506_-43-19503del
ENST00000591849.5:c.-99+31244_-99+31247del	ENSP00000465347.1:n.-99+31244_-99+31247del
ENST00000634433.1:c.1381_1384del	ENSP00000489431.1:p.Leu461SerfsTer29
NM_007294.3:c.1504_1507del , LRG_292t1:c.1504_1507del	NP_009225.1:p.Leu502SerfsTer29
NM_007297.3:c.1363_1366del	NP_009228.2:p.Leu455SerfsTer29
NM_007298.3:c.787+717_787+720del	NP_009229.2:n.787+717_787+720del
NM_007299.3:c.787+717_787+720del	NP_009230.2:n.787+717_787+720del
NM_007300.3:c.1504_1507del	NP_009231.2:p.Leu502SerfsTer29
NR_027676.1:n.1640_1643del
NM_007294.4:c.1504_1507del MANE Select	NP_009225.1:p.Leu502SerfsTer29
NM_007297.4:c.1363_1366del	NP_009228.2:p.Leu455SerfsTer29
NM_007299.4:c.787+717_787+720del	NP_009230.2:n.787+717_787+720del
NM_007300.4:c.1504_1507del	NP_009231.2:p.Leu502SerfsTer29
NR_027676.2:n.1681_1684del