Canonical Allele Identifier: CA2695225990

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093068_43093069del , CM000679.2:g.43093068_43093069del	GRCh38
NC_000017.10:g.41245085_41245086del , CM000679.1:g.41245085_41245086del	GRCh37
NC_000017.9:g.38498611_38498612del	NCBI36
NG_005905.2:g.124916_124917del , LRG_292:g.124916_124917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2527_2528del
ENST00000461574.2:c.2463_2464del	ENSP00000417241.2:p.Asp821GlufsTer2
ENST00000470026.6:c.2463_2464del	ENSP00000419274.2:p.Asp821GlufsTer2
ENST00000473961.6:c.2337_2338del	ENSP00000420201.2:p.Asp779GlufsTer2
ENST00000476777.6:c.2460_2461del	ENSP00000417554.2:p.Asp820GlufsTer2
ENST00000477152.6:c.2385_2386del	ENSP00000419988.2:p.Asp795GlufsTer2
ENST00000478531.6:c.784+1676_784+1677del	ENSP00000420412.2:n.784+1676_784+1677del
ENST00000489037.2:c.2385_2386del	ENSP00000420781.2:p.Asp795GlufsTer2
ENST00000493919.6:c.646+1676_646+1677del	ENSP00000418819.2:n.646+1676_646+1677del
ENST00000494123.6:c.2463_2464del	ENSP00000419103.2:p.Asp821GlufsTer2
ENST00000497488.2:c.1575_1576del	ENSP00000418986.2:p.Asp525GlufsTer2
ENST00000618469.2:c.2463_2464del	ENSP00000478114.2:p.Asp821GlufsTer2
ENST00000634433.2:c.2340_2341del	ENSP00000489431.2:p.Asp780GlufsTer2
ENST00000644379.2:c.2463_2464del	ENSP00000496570.2:p.Asp821GlufsTer2
ENST00000644555.2:c.646+1676_646+1677del	ENSP00000494614.2:n.646+1676_646+1677del
ENST00000652672.2:c.2322_2323del	ENSP00000498906.2:p.Asp774GlufsTer2
ENST00000484087.6:c.664+1676_664+1677del	ENSP00000419481.2:n.664+1676_664+1677del
ENST00000700182.1:c.706+1676_706+1677del	ENSP00000514849.1:n.706+1676_706+1677del
ENST00000357654.9:c.2463_2464del MANE Select	ENSP00000350283.3:p.Asp821GlufsTer2
ENST00000471181.7:c.2463_2464del	ENSP00000418960.2:p.Asp821GlufsTer2
ENST00000352993.7:c.671-2036_671-2035del	ENSP00000312236.5:n.671-2036_671-2035del
ENST00000354071.7:c.2463_2464del	ENSP00000326002.7:p.Asp821GlufsTer2
ENST00000357654.7:c.2463_2464del	ENSP00000350283.3:p.Asp821GlufsTer2
ENST00000461221.5:c.*2246_*2247del	ENSP00000418548.1:n.*2246_*2247del
ENST00000468300.5:c.787+1676_787+1677del	ENSP00000417148.1:n.787+1676_787+1677del
ENST00000471181.6:c.2463_2464del	ENSP00000418960.2:p.Asp821GlufsTer2
ENST00000478531.5:c.784+1676_784+1677del	ENSP00000420412.1:n.784+1676_784+1677del
ENST00000484087.5:c.409+1676_409+1677del	ENSP00000419481.1:n.409+1676_409+1677del
ENST00000487825.5:c.412+1676_412+1677del	ENSP00000418212.1:n.412+1676_412+1677del
ENST00000491747.6:c.787+1676_787+1677del	ENSP00000420705.2:n.787+1676_787+1677del
ENST00000493795.5:c.2322_2323del	ENSP00000418775.1:p.Asp774GlufsTer2
ENST00000493919.5:c.646+1676_646+1677del	ENSP00000418819.1:n.646+1676_646+1677del
ENST00000586385.5:c.5-29117_5-29116del	ENSP00000465818.1:n.5-29117_5-29116del
ENST00000591534.5:c.-43-18547_-43-18546del	ENSP00000467329.1:n.-43-18547_-43-18546de...
ENST00000591849.5:c.-99+32203_-99+32204del	ENSP00000465347.1:n.-99+32203_-99+32204de...
ENST00000634433.1:c.2340_2341del	ENSP00000489431.1:p.Asp780GlufsTer2
NM_007294.3:c.2463_2464del , LRG_292t1:c.2463_2464del	NP_009225.1:p.Asp821GlufsTer2
NM_007297.3:c.2322_2323del	NP_009228.2:p.Asp774GlufsTer2
NM_007298.3:c.787+1676_787+1677del	NP_009229.2:n.787+1676_787+1677del
NM_007299.3:c.787+1676_787+1677del	NP_009230.2:n.787+1676_787+1677del
NM_007300.3:c.2463_2464del	NP_009231.2:p.Asp821GlufsTer2
NR_027676.1:n.2599_2600del
NM_007294.4:c.2463_2464del MANE Select	NP_009225.1:p.Asp821GlufsTer2
NM_007297.4:c.2322_2323del	NP_009228.2:p.Asp774GlufsTer2
NM_007299.4:c.787+1676_787+1677del	NP_009230.2:n.787+1676_787+1677del
NM_007300.4:c.2463_2464del	NP_009231.2:p.Asp821GlufsTer2
NR_027676.2:n.2640_2641del