Canonical Allele Identifier: CA10589910

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266200
• ClinVar RCV Id: RCV000257731
• dbSNP Id: rs886039980
• MyVariant Identifiers: chr17:g.41245637_41245640del (hg19) ; chr17:g.43093620_43093623del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093620_43093623del , CM000679.2:g.43093620_43093623del	GRCh38
NC_000017.10:g.41245637_41245640del , CM000679.1:g.41245637_41245640del	GRCh37
NC_000017.9:g.38499163_38499166del	NCBI36
NG_005905.2:g.124361_124364del , LRG_292:g.124361_124364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1972_1975del
ENST00000461574.2:c.1908_1911del	ENSP00000417241.2:p.Cys636TrpfsTer14
ENST00000470026.6:c.1908_1911del	ENSP00000419274.2:p.Cys636TrpfsTer14
ENST00000473961.6:c.1782_1785del	ENSP00000420201.2:p.Cys594TrpfsTer14
ENST00000476777.6:c.1905_1908del	ENSP00000417554.2:p.Cys635TrpfsTer14
ENST00000477152.6:c.1830_1833del	ENSP00000419988.2:p.Cys610TrpfsTer14
ENST00000478531.6:c.784+1121_784+1124del	ENSP00000420412.2:n.784+1121_784+1124del
ENST00000489037.2:c.1830_1833del	ENSP00000420781.2:p.Cys610TrpfsTer14
ENST00000493919.6:c.646+1121_646+1124del	ENSP00000418819.2:n.646+1121_646+1124del
ENST00000494123.6:c.1908_1911del	ENSP00000419103.2:p.Cys636TrpfsTer14
ENST00000497488.2:c.1020_1023del	ENSP00000418986.2:p.Cys340TrpfsTer14
ENST00000618469.2:c.1908_1911del	ENSP00000478114.2:p.Cys636TrpfsTer14
ENST00000634433.2:c.1785_1788del	ENSP00000489431.2:p.Cys595TrpfsTer14
ENST00000644379.2:c.1908_1911del	ENSP00000496570.2:p.Cys636TrpfsTer14
ENST00000644555.2:c.646+1121_646+1124del	ENSP00000494614.2:n.646+1121_646+1124del
ENST00000652672.2:c.1767_1770del	ENSP00000498906.2:p.Cys589TrpfsTer14
ENST00000484087.6:c.664+1121_664+1124del	ENSP00000419481.2:n.664+1121_664+1124del
ENST00000700182.1:c.706+1121_706+1124del	ENSP00000514849.1:n.706+1121_706+1124del
ENST00000357654.9:c.1908_1911del MANE Select	ENSP00000350283.3:p.Cys636TrpfsTer14
ENST00000471181.7:c.1908_1911del	ENSP00000418960.2:p.Cys636TrpfsTer14
ENST00000652672.1:c.1767_1770del	ENSP00000498906.1:p.Cys589TrpfsTer?
ENST00000352993.7:c.670+2223_670+2226del	ENSP00000312236.5:n.670+2223_670+2226del
ENST00000354071.7:c.1908_1911del	ENSP00000326002.7:p.Cys636TrpfsTer14
ENST00000357654.7:c.1908_1911del	ENSP00000350283.3:p.Cys636TrpfsTer14
ENST00000412061.3:c.1259_1262del
ENST00000461221.5:c.*1691_*1694del	ENSP00000418548.1:n.*1691_*1694del
ENST00000468300.5:c.787+1121_787+1124del	ENSP00000417148.1:n.787+1121_787+1124del
ENST00000470026.5:c.1908_1911del	ENSP00000419274.1:p.Cys636TrpfsTer?
ENST00000471181.6:c.1908_1911del	ENSP00000418960.2:p.Cys636TrpfsTer14
ENST00000477152.5:c.1830_1833del	ENSP00000419988.1:p.Cys610TrpfsTer?
ENST00000478531.5:c.784+1121_784+1124del	ENSP00000420412.1:n.784+1121_784+1124del
ENST00000484087.5:c.409+1121_409+1124del	ENSP00000419481.1:n.409+1121_409+1124del
ENST00000487825.5:c.412+1121_412+1124del	ENSP00000418212.1:n.412+1121_412+1124del
ENST00000491747.6:c.787+1121_787+1124del	ENSP00000420705.2:n.787+1121_787+1124del
ENST00000493795.5:c.1767_1770del	ENSP00000418775.1:p.Cys589TrpfsTer14
ENST00000493919.5:c.646+1121_646+1124del	ENSP00000418819.1:n.646+1121_646+1124del
ENST00000586385.5:c.5-29672_5-29669del	ENSP00000465818.1:n.5-29672_5-29669del
ENST00000591534.5:c.-43-19102_-43-19099del	ENSP00000467329.1:n.-43-19102_-43-19099del
ENST00000591849.5:c.-99+31648_-99+31651del	ENSP00000465347.1:n.-99+31648_-99+31651del
ENST00000634433.1:c.1785_1788del	ENSP00000489431.1:p.Cys595TrpfsTer14
NM_007294.3:c.1908_1911del , LRG_292t1:c.1908_1911del	NP_009225.1:p.Cys636TrpfsTer14
NM_007297.3:c.1767_1770del	NP_009228.2:p.Cys589TrpfsTer14
NM_007298.3:c.787+1121_787+1124del	NP_009229.2:n.787+1121_787+1124del
NM_007299.3:c.787+1121_787+1124del	NP_009230.2:n.787+1121_787+1124del
NM_007300.3:c.1908_1911del	NP_009231.2:p.Cys636TrpfsTer14
NR_027676.1:n.2044_2047del
NM_007294.4:c.1908_1911del MANE Select	NP_009225.1:p.Cys636TrpfsTer14
NM_007297.4:c.1767_1770del	NP_009228.2:p.Cys589TrpfsTer14
NM_007299.4:c.787+1121_787+1124del	NP_009230.2:n.787+1121_787+1124del
NM_007300.4:c.1908_1911del	NP_009231.2:p.Cys636TrpfsTer14
NR_027676.2:n.2085_2088del