Canonical Allele Identifier: CA913190562

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 634719
• ClinVar RCV Id: RCV000785366
• dbSNP Id: rs1567797661

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093595_43093614del , CM000679.2:g.43093595_43093614del	GRCh38
NC_000017.10:g.41245612_41245631del , CM000679.1:g.41245612_41245631del	GRCh37
NC_000017.9:g.38499138_38499157del	NCBI36
NG_005905.2:g.124373_124392del , LRG_292:g.124373_124392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1984_2003del
ENST00000461574.2:c.1920_1939del	ENSP00000417241.2:p.Ile641Ter
ENST00000470026.6:c.1920_1939del	ENSP00000419274.2:p.Ile641Ter
ENST00000473961.6:c.1794_1813del	ENSP00000420201.2:p.Ile599Ter
ENST00000476777.6:c.1917_1936del	ENSP00000417554.2:p.Ile640Ter
ENST00000477152.6:c.1842_1861del	ENSP00000419988.2:p.Ile615Ter
ENST00000478531.6:c.784+1133_784+1152del	ENSP00000420412.2:n.784+1133_784+1152del
ENST00000489037.2:c.1842_1861del	ENSP00000420781.2:p.Ile615Ter
ENST00000493919.6:c.646+1133_646+1152del	ENSP00000418819.2:n.646+1133_646+1152del
ENST00000494123.6:c.1920_1939del	ENSP00000419103.2:p.Ile641Ter
ENST00000497488.2:c.1032_1051del	ENSP00000418986.2:p.Ile345Ter
ENST00000618469.2:c.1920_1939del	ENSP00000478114.2:p.Ile641Ter
ENST00000634433.2:c.1797_1816del	ENSP00000489431.2:p.Ile600Ter
ENST00000644379.2:c.1920_1939del	ENSP00000496570.2:p.Ile641Ter
ENST00000644555.2:c.646+1133_646+1152del	ENSP00000494614.2:n.646+1133_646+1152del
ENST00000652672.2:c.1779_1798del	ENSP00000498906.2:p.Ile594Ter
ENST00000484087.6:c.664+1133_664+1152del	ENSP00000419481.2:n.664+1133_664+1152del
ENST00000700182.1:c.706+1133_706+1152del	ENSP00000514849.1:n.706+1133_706+1152del
ENST00000357654.9:c.1920_1939del MANE Select	ENSP00000350283.3:p.Ile641Ter
ENST00000471181.7:c.1920_1939del	ENSP00000418960.2:p.Ile641Ter
ENST00000652672.1:c.1779_1798del	ENSP00000498906.1:p.Ile594Ter
ENST00000352993.7:c.670+2235_670+2254del	ENSP00000312236.5:n.670+2235_670+2254del
ENST00000354071.7:c.1920_1939del	ENSP00000326002.7:p.Ile641Ter
ENST00000357654.7:c.1920_1939del	ENSP00000350283.3:p.Ile641Ter
ENST00000412061.3:c.1271_1290del
ENST00000461221.5:c.*1703_*1722del	ENSP00000418548.1:n.*1703_*1722del
ENST00000468300.5:c.787+1133_787+1152del	ENSP00000417148.1:n.787+1133_787+1152del
ENST00000470026.5:c.1920_1939del	ENSP00000419274.1:p.Ile641Ter
ENST00000471181.6:c.1920_1939del	ENSP00000418960.2:p.Ile641Ter
ENST00000477152.5:c.1842_1861del	ENSP00000419988.1:p.Ile615Ter
ENST00000478531.5:c.784+1133_784+1152del	ENSP00000420412.1:n.784+1133_784+1152del
ENST00000484087.5:c.409+1133_409+1152del	ENSP00000419481.1:n.409+1133_409+1152del
ENST00000487825.5:c.412+1133_412+1152del	ENSP00000418212.1:n.412+1133_412+1152del
ENST00000491747.6:c.787+1133_787+1152del	ENSP00000420705.2:n.787+1133_787+1152del
ENST00000493795.5:c.1779_1798del	ENSP00000418775.1:p.Ile594Ter
ENST00000493919.5:c.646+1133_646+1152del	ENSP00000418819.1:n.646+1133_646+1152del
ENST00000586385.5:c.5-29660_5-29641del	ENSP00000465818.1:n.5-29660_5-29641del
ENST00000591534.5:c.-43-19090_-43-19071del	ENSP00000467329.1:n.-43-19090_-43-19071del
ENST00000591849.5:c.-99+31660_-99+31679del	ENSP00000465347.1:n.-99+31660_-99+31679del
ENST00000634433.1:c.1797_1816del	ENSP00000489431.1:p.Ile600Ter
NM_007294.3:c.1920_1939del , LRG_292t1:c.1920_1939del	NP_009225.1:p.Ile641Ter
NM_007297.3:c.1779_1798del	NP_009228.2:p.Ile594Ter
NM_007298.3:c.787+1133_787+1152del	NP_009229.2:n.787+1133_787+1152del
NM_007299.3:c.787+1133_787+1152del	NP_009230.2:n.787+1133_787+1152del
NM_007300.3:c.1920_1939del	NP_009231.2:p.Ile641Ter
NR_027676.1:n.2056_2075del
NM_007294.4:c.1920_1939del MANE Select	NP_009225.1:p.Ile641Ter
NM_007297.4:c.1779_1798del	NP_009228.2:p.Ile594Ter
NM_007299.4:c.787+1133_787+1152del	NP_009230.2:n.787+1133_787+1152del
NM_007300.4:c.1920_1939del	NP_009231.2:p.Ile641Ter
NR_027676.2:n.2097_2116del