Canonical Allele Identifier: CA10589871

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266227
• ClinVar RCV Id: RCV000257327
• dbSNP Id: rs1555590136
• MyVariant Identifiers: chr17:g.41245327_41245393dup (hg19) ; chr17:g.41245327_41245393dup67 (hg19) ; chr17:g.43093310_43093376dup (hg38) ; chr17:g.43093310_43093376dup67 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093311_43093377dup , CM000679.2:g.43093311_43093377dup	GRCh38
NC_000017.10:g.41245328_41245394dup , CM000679.1:g.41245328_41245394dup	GRCh37
NC_000017.9:g.38498854_38498920dup	NCBI36
NG_005905.2:g.124608_124674dup , LRG_292:g.124608_124674dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2219_2285dup
ENST00000461574.2:c.2155_2221dup	ENSP00000417241.2:p.Ser741Ter
ENST00000470026.6:c.2155_2221dup	ENSP00000419274.2:p.Ser741Ter
ENST00000473961.6:c.2029_2095dup	ENSP00000420201.2:p.Ser699Ter
ENST00000476777.6:c.2152_2218dup	ENSP00000417554.2:p.Ser740Ter
ENST00000477152.6:c.2077_2143dup	ENSP00000419988.2:p.Ser715Ter
ENST00000478531.6:c.784+1368_784+1434dup	ENSP00000420412.2:n.784+1368_784+1434dup
ENST00000489037.2:c.2077_2143dup	ENSP00000420781.2:p.Ser715Ter
ENST00000493919.6:c.646+1368_646+1434dup	ENSP00000418819.2:n.646+1368_646+1434dup
ENST00000494123.6:c.2155_2221dup	ENSP00000419103.2:p.Ser741Ter
ENST00000497488.2:c.1267_1333dup	ENSP00000418986.2:p.Ser445Ter
ENST00000618469.2:c.2155_2221dup	ENSP00000478114.2:p.Ser741Ter
ENST00000634433.2:c.2032_2098dup	ENSP00000489431.2:p.Ser700Ter
ENST00000644379.2:c.2155_2221dup	ENSP00000496570.2:p.Ser741Ter
ENST00000644555.2:c.646+1368_646+1434dup	ENSP00000494614.2:n.646+1368_646+1434dup
ENST00000652672.2:c.2014_2080dup	ENSP00000498906.2:p.Ser694Ter
ENST00000484087.6:c.664+1368_664+1434dup	ENSP00000419481.2:n.664+1368_664+1434dup
ENST00000700182.1:c.706+1368_706+1434dup	ENSP00000514849.1:n.706+1368_706+1434dup
ENST00000357654.9:c.2155_2221dup MANE Select	ENSP00000350283.3:p.Ser741Ter
ENST00000471181.7:c.2155_2221dup	ENSP00000418960.2:p.Ser741Ter
ENST00000352993.7:c.671-2344_671-2278dup	ENSP00000312236.5:n.671-2344_671-2278dup
ENST00000354071.7:c.2155_2221dup	ENSP00000326002.7:p.Ser741Ter
ENST00000357654.7:c.2155_2221dup	ENSP00000350283.3:p.Ser741Ter
ENST00000461221.5:c.*1938_*2004dup	ENSP00000418548.1:n.*1938_*2004dup
ENST00000468300.5:c.787+1368_787+1434dup	ENSP00000417148.1:n.787+1368_787+1434dup
ENST00000471181.6:c.2155_2221dup	ENSP00000418960.2:p.Ser741Ter
ENST00000478531.5:c.784+1368_784+1434dup	ENSP00000420412.1:n.784+1368_784+1434dup
ENST00000484087.5:c.409+1368_409+1434dup	ENSP00000419481.1:n.409+1368_409+1434dup
ENST00000487825.5:c.412+1368_412+1434dup	ENSP00000418212.1:n.412+1368_412+1434dup
ENST00000491747.6:c.787+1368_787+1434dup	ENSP00000420705.2:n.787+1368_787+1434dup
ENST00000493795.5:c.2014_2080dup	ENSP00000418775.1:p.Ser694Ter
ENST00000493919.5:c.646+1368_646+1434dup	ENSP00000418819.1:n.646+1368_646+1434dup
ENST00000586385.5:c.5-29425_5-29359dup	ENSP00000465818.1:n.5-29425_5-29359dup
ENST00000591534.5:c.-43-18855_-43-18789dup	ENSP00000467329.1:n.-43-18855_-43-18789du...
ENST00000591849.5:c.-99+31895_-99+31961dup	ENSP00000465347.1:n.-99+31895_-99+31961du...
ENST00000634433.1:c.2032_2098dup	ENSP00000489431.1:p.Ser700Ter
NM_007294.3:c.2155_2221dup , LRG_292t1:c.2155_2221dup	NP_009225.1:p.Ser741Ter
NM_007297.3:c.2014_2080dup	NP_009228.2:p.Ser694Ter
NM_007298.3:c.787+1368_787+1434dup	NP_009229.2:n.787+1368_787+1434dup
NM_007299.3:c.787+1368_787+1434dup	NP_009230.2:n.787+1368_787+1434dup
NM_007300.3:c.2155_2221dup	NP_009231.2:p.Ser741Ter
NR_027676.1:n.2291_2357dup
NM_007294.4:c.2155_2221dup MANE Select	NP_009225.1:p.Ser741Ter
NM_007297.4:c.2014_2080dup	NP_009228.2:p.Ser694Ter
NM_007299.4:c.787+1368_787+1434dup	NP_009230.2:n.787+1368_787+1434dup
NM_007300.4:c.2155_2221dup	NP_009231.2:p.Ser741Ter
NR_027676.2:n.2332_2398dup