Canonical Allele Identifier: CA645578303

Gene: BRCA1

Linked Data

• COSMIC: COSM219049

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093075_43093085del , CM000679.2:g.43093075_43093085del	GRCh38
NC_000017.10:g.41245092_41245102del , CM000679.1:g.41245092_41245102del	GRCh37
NC_000017.9:g.38498618_38498628del	NCBI36
NG_005905.2:g.124901_124911del , LRG_292:g.124901_124911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2512_2522del
ENST00000461574.2:c.2448_2458del	ENSP00000417241.2:p.His816GlnfsTer3
ENST00000470026.6:c.2448_2458del	ENSP00000419274.2:p.His816GlnfsTer3
ENST00000473961.6:c.2322_2332del	ENSP00000420201.2:p.His774GlnfsTer3
ENST00000476777.6:c.2445_2455del	ENSP00000417554.2:p.His815GlnfsTer3
ENST00000477152.6:c.2370_2380del	ENSP00000419988.2:p.His790GlnfsTer3
ENST00000478531.6:c.784+1661_784+1671del	ENSP00000420412.2:n.784+1661_784+1671del
ENST00000489037.2:c.2370_2380del	ENSP00000420781.2:p.His790GlnfsTer3
ENST00000493919.6:c.646+1661_646+1671del	ENSP00000418819.2:n.646+1661_646+1671del
ENST00000494123.6:c.2448_2458del	ENSP00000419103.2:p.His816GlnfsTer3
ENST00000497488.2:c.1560_1570del	ENSP00000418986.2:p.His520GlnfsTer3
ENST00000618469.2:c.2448_2458del	ENSP00000478114.2:p.His816GlnfsTer3
ENST00000634433.2:c.2325_2335del	ENSP00000489431.2:p.His775GlnfsTer3
ENST00000644379.2:c.2448_2458del	ENSP00000496570.2:p.His816GlnfsTer3
ENST00000644555.2:c.646+1661_646+1671del	ENSP00000494614.2:n.646+1661_646+1671del
ENST00000652672.2:c.2307_2317del	ENSP00000498906.2:p.His769GlnfsTer3
ENST00000484087.6:c.664+1661_664+1671del	ENSP00000419481.2:n.664+1661_664+1671del
ENST00000700182.1:c.706+1661_706+1671del	ENSP00000514849.1:n.706+1661_706+1671del
ENST00000357654.9:c.2448_2458del MANE Select	ENSP00000350283.3:p.His816GlnfsTer3
ENST00000471181.7:c.2448_2458del	ENSP00000418960.2:p.His816GlnfsTer3
ENST00000352993.7:c.671-2051_671-2041del	ENSP00000312236.5:n.671-2051_671-2041del
ENST00000354071.7:c.2448_2458del	ENSP00000326002.7:p.His816GlnfsTer3
ENST00000357654.7:c.2448_2458del	ENSP00000350283.3:p.His816GlnfsTer3
ENST00000461221.5:c.*2231_*2241del	ENSP00000418548.1:n.*2231_*2241del
ENST00000468300.5:c.787+1661_787+1671del	ENSP00000417148.1:n.787+1661_787+1671del
ENST00000471181.6:c.2448_2458del	ENSP00000418960.2:p.His816GlnfsTer3
ENST00000478531.5:c.784+1661_784+1671del	ENSP00000420412.1:n.784+1661_784+1671del
ENST00000484087.5:c.409+1661_409+1671del	ENSP00000419481.1:n.409+1661_409+1671del
ENST00000487825.5:c.412+1661_412+1671del	ENSP00000418212.1:n.412+1661_412+1671del
ENST00000491747.6:c.787+1661_787+1671del	ENSP00000420705.2:n.787+1661_787+1671del
ENST00000493795.5:c.2307_2317del	ENSP00000418775.1:p.His769GlnfsTer3
ENST00000493919.5:c.646+1661_646+1671del	ENSP00000418819.1:n.646+1661_646+1671del
ENST00000586385.5:c.5-29132_5-29122del	ENSP00000465818.1:n.5-29132_5-29122del
ENST00000591534.5:c.-43-18562_-43-18552del	ENSP00000467329.1:n.-43-18562_-43-18552del
ENST00000591849.5:c.-99+32188_-99+32198del	ENSP00000465347.1:n.-99+32188_-99+32198del
ENST00000634433.1:c.2325_2335del	ENSP00000489431.1:p.His775GlnfsTer3
NM_007294.3:c.2448_2458del , LRG_292t1:c.2448_2458del	NP_009225.1:p.His816GlnfsTer3
NM_007297.3:c.2307_2317del	NP_009228.2:p.His769GlnfsTer3
NM_007298.3:c.787+1661_787+1671del	NP_009229.2:n.787+1661_787+1671del
NM_007299.3:c.787+1661_787+1671del	NP_009230.2:n.787+1661_787+1671del
NM_007300.3:c.2448_2458del	NP_009231.2:p.His816GlnfsTer3
NR_027676.1:n.2584_2594del
NM_007294.4:c.2448_2458del MANE Select	NP_009225.1:p.His816GlnfsTer3
NM_007297.4:c.2307_2317del	NP_009228.2:p.His769GlnfsTer3
NM_007299.4:c.787+1661_787+1671del	NP_009230.2:n.787+1661_787+1671del
NM_007300.4:c.2448_2458del	NP_009231.2:p.His816GlnfsTer3
NR_027676.2:n.2625_2635del