Canonical Allele Identifier: CA2580094101

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1782566
• ClinVar RCV Id: RCV002410599

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093541_43093619del , CM000679.2:g.43093541_43093619del	GRCh38
NC_000017.10:g.41245558_41245636del , CM000679.1:g.41245558_41245636del	GRCh37
NC_000017.9:g.38499084_38499162del	NCBI36
NG_005905.2:g.124368_124446del , LRG_292:g.124368_124446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1979_2057del
ENST00000461574.2:c.1915_1993del	ENSP00000417241.2:p.Leu639ThrfsTer?
ENST00000470026.6:c.1915_1993del	ENSP00000419274.2:p.Leu639ThrfsTer?
ENST00000473961.6:c.1789_1867del	ENSP00000420201.2:p.Leu597ThrfsTer?
ENST00000476777.6:c.1912_1990del	ENSP00000417554.2:p.Leu638ThrfsTer?
ENST00000477152.6:c.1837_1915del	ENSP00000419988.2:p.Leu613ThrfsTer?
ENST00000478531.6:c.784+1128_784+1206del	ENSP00000420412.2:n.784+1128_784+1206del
ENST00000489037.2:c.1837_1915del	ENSP00000420781.2:p.Leu613ThrfsTer?
ENST00000493919.6:c.646+1128_646+1206del	ENSP00000418819.2:n.646+1128_646+1206del
ENST00000494123.6:c.1915_1993del	ENSP00000419103.2:p.Leu639ThrfsTer?
ENST00000497488.2:c.1027_1105del	ENSP00000418986.2:p.Leu343ThrfsTer?
ENST00000618469.2:c.1915_1993del	ENSP00000478114.2:p.Leu639ThrfsTer?
ENST00000634433.2:c.1792_1870del	ENSP00000489431.2:p.Leu598ThrfsTer?
ENST00000644379.2:c.1915_1993del	ENSP00000496570.2:p.Leu639ThrfsTer?
ENST00000644555.2:c.646+1128_646+1206del	ENSP00000494614.2:n.646+1128_646+1206del
ENST00000652672.2:c.1774_1852del	ENSP00000498906.2:p.Leu592ThrfsTer?
ENST00000484087.6:c.664+1128_664+1206del	ENSP00000419481.2:n.664+1128_664+1206del
ENST00000700182.1:c.706+1128_706+1206del	ENSP00000514849.1:n.706+1128_706+1206del
ENST00000357654.9:c.1915_1993del MANE Select	ENSP00000350283.3:p.Leu639ThrfsTer?
ENST00000471181.7:c.1915_1993del	ENSP00000418960.2:p.Leu639ThrfsTer?
ENST00000352993.7:c.670+2230_670+2308del	ENSP00000312236.5:n.670+2230_670+2308del
ENST00000354071.7:c.1915_1993del	ENSP00000326002.7:p.Leu639ThrfsTer?
ENST00000357654.7:c.1915_1993del	ENSP00000350283.3:p.Leu639ThrfsTer?
ENST00000461221.5:c.*1698_*1776del	ENSP00000418548.1:n.*1698_*1776del
ENST00000468300.5:c.787+1128_787+1206del	ENSP00000417148.1:n.787+1128_787+1206del
ENST00000471181.6:c.1915_1993del	ENSP00000418960.2:p.Leu639ThrfsTer?
ENST00000478531.5:c.784+1128_784+1206del	ENSP00000420412.1:n.784+1128_784+1206del
ENST00000484087.5:c.409+1128_409+1206del	ENSP00000419481.1:n.409+1128_409+1206del
ENST00000487825.5:c.412+1128_412+1206del	ENSP00000418212.1:n.412+1128_412+1206del
ENST00000491747.6:c.787+1128_787+1206del	ENSP00000420705.2:n.787+1128_787+1206del
ENST00000493795.5:c.1774_1852del	ENSP00000418775.1:p.Leu592ThrfsTer?
ENST00000493919.5:c.646+1128_646+1206del	ENSP00000418819.1:n.646+1128_646+1206del
ENST00000586385.5:c.5-29665_5-29587del	ENSP00000465818.1:n.5-29665_5-29587del
ENST00000591534.5:c.-43-19095_-43-19017del	ENSP00000467329.1:n.-43-19095_-43-19017del
ENST00000591849.5:c.-99+31655_-99+31733del	ENSP00000465347.1:n.-99+31655_-99+31733del
ENST00000634433.1:c.1792_1870del	ENSP00000489431.1:p.Leu598ThrfsTer?
NM_007294.3:c.1915_1993del , LRG_292t1:c.1915_1993del	NP_009225.1:p.Leu639ThrfsTer?
NM_007297.3:c.1774_1852del	NP_009228.2:p.Leu592ThrfsTer?
NM_007298.3:c.787+1128_787+1206del	NP_009229.2:n.787+1128_787+1206del
NM_007299.3:c.787+1128_787+1206del	NP_009230.2:n.787+1128_787+1206del
NM_007300.3:c.1915_1993del	NP_009231.2:p.Leu639ThrfsTer?
NR_027676.1:n.2051_2129del
NM_007294.4:c.1915_1993del MANE Select	NP_009225.1:p.Leu639ThrfsTer?
NM_007297.4:c.1774_1852del	NP_009228.2:p.Leu592ThrfsTer?
NM_007299.4:c.787+1128_787+1206del	NP_009230.2:n.787+1128_787+1206del
NM_007300.4:c.1915_1993del	NP_009231.2:p.Leu639ThrfsTer?
NR_027676.2:n.2092_2170del