Canonical Allele Identifier: CA2695199932

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2680223
• ClinVar RCV Id: RCV003460233

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093548_43093566del , CM000679.2:g.43093548_43093566del	GRCh38
NC_000017.10:g.41245565_41245583del , CM000679.1:g.41245565_41245583del	GRCh37
NC_000017.9:g.38499091_38499109del	NCBI36
NG_005905.2:g.124420_124438del , LRG_292:g.124420_124438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2031_2049del
ENST00000461574.2:c.1967_1985del	ENSP00000417241.2:p.Asn656ThrfsTer?
ENST00000470026.6:c.1967_1985del	ENSP00000419274.2:p.Asn656ThrfsTer?
ENST00000473961.6:c.1841_1859del	ENSP00000420201.2:p.Asn614ThrfsTer?
ENST00000476777.6:c.1964_1982del	ENSP00000417554.2:p.Asn655ThrfsTer?
ENST00000477152.6:c.1889_1907del	ENSP00000419988.2:p.Asn630ThrfsTer?
ENST00000478531.6:c.784+1180_784+1198del	ENSP00000420412.2:n.784+1180_784+1198del
ENST00000489037.2:c.1889_1907del	ENSP00000420781.2:p.Asn630ThrfsTer?
ENST00000493919.6:c.646+1180_646+1198del	ENSP00000418819.2:n.646+1180_646+1198del
ENST00000494123.6:c.1967_1985del	ENSP00000419103.2:p.Asn656ThrfsTer?
ENST00000497488.2:c.1079_1097del	ENSP00000418986.2:p.Asn360ThrfsTer?
ENST00000618469.2:c.1967_1985del	ENSP00000478114.2:p.Asn656ThrfsTer?
ENST00000634433.2:c.1844_1862del	ENSP00000489431.2:p.Asn615ThrfsTer?
ENST00000644379.2:c.1967_1985del	ENSP00000496570.2:p.Asn656ThrfsTer?
ENST00000644555.2:c.646+1180_646+1198del	ENSP00000494614.2:n.646+1180_646+1198del
ENST00000652672.2:c.1826_1844del	ENSP00000498906.2:p.Asn609ThrfsTer?
ENST00000484087.6:c.664+1180_664+1198del	ENSP00000419481.2:n.664+1180_664+1198del
ENST00000700182.1:c.706+1180_706+1198del	ENSP00000514849.1:n.706+1180_706+1198del
ENST00000357654.9:c.1967_1985del MANE Select	ENSP00000350283.3:p.Asn656ThrfsTer?
ENST00000471181.7:c.1967_1985del	ENSP00000418960.2:p.Asn656ThrfsTer?
ENST00000352993.7:c.670+2282_670+2300del	ENSP00000312236.5:n.670+2282_670+2300del
ENST00000354071.7:c.1967_1985del	ENSP00000326002.7:p.Asn656ThrfsTer?
ENST00000357654.7:c.1967_1985del	ENSP00000350283.3:p.Asn656ThrfsTer?
ENST00000461221.5:c.*1750_*1768del	ENSP00000418548.1:n.*1750_*1768del
ENST00000468300.5:c.787+1180_787+1198del	ENSP00000417148.1:n.787+1180_787+1198del
ENST00000471181.6:c.1967_1985del	ENSP00000418960.2:p.Asn656ThrfsTer?
ENST00000478531.5:c.784+1180_784+1198del	ENSP00000420412.1:n.784+1180_784+1198del
ENST00000484087.5:c.409+1180_409+1198del	ENSP00000419481.1:n.409+1180_409+1198del
ENST00000487825.5:c.412+1180_412+1198del	ENSP00000418212.1:n.412+1180_412+1198del
ENST00000491747.6:c.787+1180_787+1198del	ENSP00000420705.2:n.787+1180_787+1198del
ENST00000493795.5:c.1826_1844del	ENSP00000418775.1:p.Asn609ThrfsTer?
ENST00000493919.5:c.646+1180_646+1198del	ENSP00000418819.1:n.646+1180_646+1198del
ENST00000586385.5:c.5-29613_5-29595del	ENSP00000465818.1:n.5-29613_5-29595del
ENST00000591534.5:c.-43-19043_-43-19025del	ENSP00000467329.1:n.-43-19043_-43-19025del
ENST00000591849.5:c.-99+31707_-99+31725del	ENSP00000465347.1:n.-99+31707_-99+31725del
ENST00000634433.1:c.1844_1862del	ENSP00000489431.1:p.Asn615ThrfsTer?
NM_007294.3:c.1967_1985del , LRG_292t1:c.1967_1985del	NP_009225.1:p.Asn656ThrfsTer?
NM_007297.3:c.1826_1844del	NP_009228.2:p.Asn609ThrfsTer?
NM_007298.3:c.787+1180_787+1198del	NP_009229.2:n.787+1180_787+1198del
NM_007299.3:c.787+1180_787+1198del	NP_009230.2:n.787+1180_787+1198del
NM_007300.3:c.1967_1985del	NP_009231.2:p.Asn656ThrfsTer?
NR_027676.1:n.2103_2121del
NM_007294.4:c.1967_1985del MANE Select	NP_009225.1:p.Asn656ThrfsTer?
NM_007297.4:c.1826_1844del	NP_009228.2:p.Asn609ThrfsTer?
NM_007299.4:c.787+1180_787+1198del	NP_009230.2:n.787+1180_787+1198del
NM_007300.4:c.1967_1985del	NP_009231.2:p.Asn656ThrfsTer?
NR_027676.2:n.2144_2162del