Canonical Allele Identifier: CA915950079

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 821125
• ClinVar RCV Id: RCV001015234
• dbSNP Id: rs1597870272

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093139_43093193dup , CM000679.2:g.43093139_43093193dup	GRCh38
NC_000017.10:g.41245156_41245210dup , CM000679.1:g.41245156_41245210dup	GRCh37
NC_000017.9:g.38498682_38498736dup	NCBI36
NG_005905.2:g.124793_124847dup , LRG_292:g.124793_124847dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2404_2458dup
ENST00000461574.2:c.2340_2394dup	ENSP00000417241.2:p.Asn799GlyfsTer9
ENST00000470026.6:c.2340_2394dup	ENSP00000419274.2:p.Asn799GlyfsTer9
ENST00000473961.6:c.2214_2268dup	ENSP00000420201.2:p.Asn757GlyfsTer9
ENST00000476777.6:c.2337_2391dup	ENSP00000417554.2:p.Asn798GlyfsTer9
ENST00000477152.6:c.2262_2316dup	ENSP00000419988.2:p.Asn773GlyfsTer9
ENST00000478531.6:c.784+1553_784+1607dup	ENSP00000420412.2:n.784+1553_784+1607dup
ENST00000489037.2:c.2262_2316dup	ENSP00000420781.2:p.Asn773GlyfsTer9
ENST00000493919.6:c.646+1553_646+1607dup	ENSP00000418819.2:n.646+1553_646+1607dup
ENST00000494123.6:c.2340_2394dup	ENSP00000419103.2:p.Asn799GlyfsTer9
ENST00000497488.2:c.1452_1506dup	ENSP00000418986.2:p.Asn503GlyfsTer9
ENST00000618469.2:c.2340_2394dup	ENSP00000478114.2:p.Asn799GlyfsTer9
ENST00000634433.2:c.2217_2271dup	ENSP00000489431.2:p.Asn758GlyfsTer9
ENST00000644379.2:c.2340_2394dup	ENSP00000496570.2:p.Asn799GlyfsTer9
ENST00000644555.2:c.646+1553_646+1607dup	ENSP00000494614.2:n.646+1553_646+1607dup
ENST00000652672.2:c.2199_2253dup	ENSP00000498906.2:p.Asn752GlyfsTer9
ENST00000484087.6:c.664+1553_664+1607dup	ENSP00000419481.2:n.664+1553_664+1607dup
ENST00000700182.1:c.706+1553_706+1607dup	ENSP00000514849.1:n.706+1553_706+1607dup
ENST00000357654.9:c.2340_2394dup MANE Select	ENSP00000350283.3:p.Asn799GlyfsTer9
ENST00000471181.7:c.2340_2394dup	ENSP00000418960.2:p.Asn799GlyfsTer9
ENST00000352993.7:c.671-2159_671-2105dup	ENSP00000312236.5:n.671-2159_671-2105dup
ENST00000354071.7:c.2340_2394dup	ENSP00000326002.7:p.Asn799GlyfsTer9
ENST00000357654.7:c.2340_2394dup	ENSP00000350283.3:p.Asn799GlyfsTer9
ENST00000461221.5:c.*2123_*2177dup	ENSP00000418548.1:n.*2123_*2177dup
ENST00000468300.5:c.787+1553_787+1607dup	ENSP00000417148.1:n.787+1553_787+1607dup
ENST00000471181.6:c.2340_2394dup	ENSP00000418960.2:p.Asn799GlyfsTer9
ENST00000478531.5:c.784+1553_784+1607dup	ENSP00000420412.1:n.784+1553_784+1607dup
ENST00000484087.5:c.409+1553_409+1607dup	ENSP00000419481.1:n.409+1553_409+1607dup
ENST00000487825.5:c.412+1553_412+1607dup	ENSP00000418212.1:n.412+1553_412+1607dup
ENST00000491747.6:c.787+1553_787+1607dup	ENSP00000420705.2:n.787+1553_787+1607dup
ENST00000493795.5:c.2199_2253dup	ENSP00000418775.1:p.Asn752GlyfsTer9
ENST00000493919.5:c.646+1553_646+1607dup	ENSP00000418819.1:n.646+1553_646+1607dup
ENST00000586385.5:c.5-29240_5-29186dup	ENSP00000465818.1:n.5-29240_5-29186dup
ENST00000591534.5:c.-43-18670_-43-18616dup	ENSP00000467329.1:n.-43-18670_-43-18616du...
ENST00000591849.5:c.-99+32080_-99+32134dup	ENSP00000465347.1:n.-99+32080_-99+32134du...
ENST00000634433.1:c.2217_2271dup	ENSP00000489431.1:p.Asn758GlyfsTer9
NM_007294.3:c.2340_2394dup , LRG_292t1:c.2340_2394dup	NP_009225.1:p.Asn799GlyfsTer9
NM_007297.3:c.2199_2253dup	NP_009228.2:p.Asn752GlyfsTer9
NM_007298.3:c.787+1553_787+1607dup	NP_009229.2:n.787+1553_787+1607dup
NM_007299.3:c.787+1553_787+1607dup	NP_009230.2:n.787+1553_787+1607dup
NM_007300.3:c.2340_2394dup	NP_009231.2:p.Asn799GlyfsTer9
NR_027676.1:n.2476_2530dup
NM_007294.4:c.2340_2394dup MANE Select	NP_009225.1:p.Asn799GlyfsTer9
NM_007297.4:c.2199_2253dup	NP_009228.2:p.Asn752GlyfsTer9
NM_007299.4:c.787+1553_787+1607dup	NP_009230.2:n.787+1553_787+1607dup
NM_007300.4:c.2340_2394dup	NP_009231.2:p.Asn799GlyfsTer9
NR_027676.2:n.2517_2571dup