Canonical Allele Identifier: CA2580094007

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1793596
• ClinVar RCV Id: RCV002426190

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092905_43092932del , CM000679.2:g.43092905_43092932del	GRCh38
NC_000017.10:g.41244922_41244949del , CM000679.1:g.41244922_41244949del	GRCh37
NC_000017.9:g.38498448_38498475del	NCBI36
NG_005905.2:g.125052_125079del , LRG_292:g.125052_125079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2663_2690del
ENST00000461574.2:c.2599_2626del	ENSP00000417241.2:p.Gln867GlufsTer17
ENST00000470026.6:c.2599_2626del	ENSP00000419274.2:p.Gln867GlufsTer17
ENST00000473961.6:c.2473_2500del	ENSP00000420201.2:p.Gln825GlufsTer17
ENST00000476777.6:c.2596_2623del	ENSP00000417554.2:p.Gln866GlufsTer17
ENST00000477152.6:c.2521_2548del	ENSP00000419988.2:p.Gln841GlufsTer17
ENST00000478531.6:c.784+1812_784+1839del	ENSP00000420412.2:n.784+1812_784+1839del
ENST00000489037.2:c.2521_2548del	ENSP00000420781.2:p.Gln841GlufsTer17
ENST00000493919.6:c.646+1812_646+1839del	ENSP00000418819.2:n.646+1812_646+1839del
ENST00000494123.6:c.2599_2626del	ENSP00000419103.2:p.Gln867GlufsTer17
ENST00000497488.2:c.1711_1738del	ENSP00000418986.2:p.Gln571GlufsTer17
ENST00000618469.2:c.2599_2626del	ENSP00000478114.2:p.Gln867GlufsTer17
ENST00000634433.2:c.2476_2503del	ENSP00000489431.2:p.Gln826GlufsTer17
ENST00000644379.2:c.2599_2626del	ENSP00000496570.2:p.Gln867GlufsTer17
ENST00000644555.2:c.646+1812_646+1839del	ENSP00000494614.2:n.646+1812_646+1839del
ENST00000652672.2:c.2458_2485del	ENSP00000498906.2:p.Gln820GlufsTer17
ENST00000484087.6:c.664+1812_664+1839del	ENSP00000419481.2:n.664+1812_664+1839del
ENST00000700182.1:c.706+1812_706+1839del	ENSP00000514849.1:n.706+1812_706+1839del
ENST00000357654.9:c.2599_2626del MANE Select	ENSP00000350283.3:p.Gln867GlufsTer17
ENST00000471181.7:c.2599_2626del	ENSP00000418960.2:p.Gln867GlufsTer17
ENST00000352993.7:c.671-1900_671-1873del	ENSP00000312236.5:n.671-1900_671-1873del
ENST00000354071.7:c.2599_2626del	ENSP00000326002.7:p.Gln867GlufsTer17
ENST00000357654.7:c.2599_2626del	ENSP00000350283.3:p.Gln867GlufsTer17
ENST00000461221.5:c.*2382_*2409del	ENSP00000418548.1:n.*2382_*2409del
ENST00000468300.5:c.787+1812_787+1839del	ENSP00000417148.1:n.787+1812_787+1839del
ENST00000471181.6:c.2599_2626del	ENSP00000418960.2:p.Gln867GlufsTer17
ENST00000478531.5:c.784+1812_784+1839del	ENSP00000420412.1:n.784+1812_784+1839del
ENST00000484087.5:c.409+1812_409+1839del	ENSP00000419481.1:n.409+1812_409+1839del
ENST00000487825.5:c.412+1812_412+1839del	ENSP00000418212.1:n.412+1812_412+1839del
ENST00000491747.6:c.787+1812_787+1839del	ENSP00000420705.2:n.787+1812_787+1839del
ENST00000493795.5:c.2458_2485del	ENSP00000418775.1:p.Gln820GlufsTer17
ENST00000493919.5:c.646+1812_646+1839del	ENSP00000418819.1:n.646+1812_646+1839del
ENST00000586385.5:c.5-28981_5-28954del	ENSP00000465818.1:n.5-28981_5-28954del
ENST00000591534.5:c.-43-18411_-43-18384del	ENSP00000467329.1:n.-43-18411_-43-18384del
ENST00000591849.5:c.-99+32339_-99+32366del	ENSP00000465347.1:n.-99+32339_-99+32366del
NM_007294.3:c.2599_2626del , LRG_292t1:c.2599_2626del	NP_009225.1:p.Gln867GlufsTer17
NM_007297.3:c.2458_2485del	NP_009228.2:p.Gln820GlufsTer17
NM_007298.3:c.787+1812_787+1839del	NP_009229.2:n.787+1812_787+1839del
NM_007299.3:c.787+1812_787+1839del	NP_009230.2:n.787+1812_787+1839del
NM_007300.3:c.2599_2626del	NP_009231.2:p.Gln867GlufsTer17
NR_027676.1:n.2735_2762del
NM_007294.4:c.2599_2626del MANE Select	NP_009225.1:p.Gln867GlufsTer17
NM_007297.4:c.2458_2485del	NP_009228.2:p.Gln820GlufsTer17
NM_007299.4:c.787+1812_787+1839del	NP_009230.2:n.787+1812_787+1839del
NM_007300.4:c.2599_2626del	NP_009231.2:p.Gln867GlufsTer17
NR_027676.2:n.2776_2803del