Canonical Allele Identifier: CA2260783964

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093437_43093438delinsTG , CM000679.2:g.43093437_43093438delinsTG	GRCh38
NC_000017.10:g.41245454_41245455delinsTG , CM000679.1:g.41245454_41245455delinsTG	GRCh37
NC_000017.9:g.38498980_38498981delinsTG	NCBI36
NG_005905.2:g.124546_124547delinsCA , LRG_292:g.124546_124547delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2157_2158delinsCA
ENST00000461574.2:c.2093_2094delinsCA	ENSP00000417241.2:p.Pro698=
ENST00000470026.6:c.2093_2094delinsCA	ENSP00000419274.2:p.Pro698=
ENST00000473961.6:c.1967_1968delinsCA	ENSP00000420201.2:p.Pro656=
ENST00000476777.6:c.2090_2091delinsCA	ENSP00000417554.2:p.Pro697=
ENST00000477152.6:c.2015_2016delinsCA	ENSP00000419988.2:p.Pro672=
ENST00000478531.6:c.784+1306_784+1307delinsCA	ENSP00000420412.2:n.784+1306_784+1307delinsCA
ENST00000489037.2:c.2015_2016delinsCA	ENSP00000420781.2:p.Pro672=
ENST00000493919.6:c.646+1306_646+1307delinsCA	ENSP00000418819.2:n.646+1306_646+1307delinsCA
ENST00000494123.6:c.2093_2094delinsCA	ENSP00000419103.2:p.Pro698=
ENST00000497488.2:c.1205_1206delinsCA	ENSP00000418986.2:p.Pro402=
ENST00000618469.2:c.2093_2094delinsCA	ENSP00000478114.2:p.Pro698=
ENST00000634433.2:c.1970_1971delinsCA	ENSP00000489431.2:p.Pro657=
ENST00000644379.2:c.2093_2094delinsCA	ENSP00000496570.2:p.Pro698=
ENST00000644555.2:c.646+1306_646+1307delinsCA	ENSP00000494614.2:n.646+1306_646+1307delinsCA
ENST00000652672.2:c.1952_1953delinsCA	ENSP00000498906.2:p.Pro651=
ENST00000484087.6:c.664+1306_664+1307delinsCA	ENSP00000419481.2:n.664+1306_664+1307delinsCA
ENST00000700182.1:c.706+1306_706+1307delinsCA	ENSP00000514849.1:n.706+1306_706+1307delinsCA
ENST00000357654.9:c.2093_2094delinsCA MANE Select	ENSP00000350283.3:p.Pro698=
ENST00000471181.7:c.2093_2094delinsCA	ENSP00000418960.2:p.Pro698=
ENST00000352993.7:c.671-2406_671-2405delinsCA	ENSP00000312236.5:n.671-2406_671-2405delinsCA
ENST00000354071.7:c.2093_2094delinsCA	ENSP00000326002.7:p.Pro698=
ENST00000357654.7:c.2093_2094delinsCA	ENSP00000350283.3:p.Pro698=
ENST00000461221.5:c.*1876_*1877delinsCA	ENSP00000418548.1:n.*1876_*1877delinsCA
ENST00000468300.5:c.787+1306_787+1307delinsCA	ENSP00000417148.1:n.787+1306_787+1307delinsCA
ENST00000471181.6:c.2093_2094delinsCA	ENSP00000418960.2:p.Pro698=
ENST00000478531.5:c.784+1306_784+1307delinsCA	ENSP00000420412.1:n.784+1306_784+1307delinsCA
ENST00000484087.5:c.409+1306_409+1307delinsCA	ENSP00000419481.1:n.409+1306_409+1307delinsCA
ENST00000487825.5:c.412+1306_412+1307delinsCA	ENSP00000418212.1:n.412+1306_412+1307delinsCA
ENST00000491747.6:c.787+1306_787+1307delinsCA	ENSP00000420705.2:n.787+1306_787+1307delinsCA
ENST00000493795.5:c.1952_1953delinsCA	ENSP00000418775.1:p.Pro651=
ENST00000493919.5:c.646+1306_646+1307delinsCA	ENSP00000418819.1:n.646+1306_646+1307delinsCA
ENST00000586385.5:c.5-29487_5-29486delinsCA	ENSP00000465818.1:n.5-29487_5-29486delinsCA
ENST00000591534.5:c.-43-18917_-43-18916delinsCA	ENSP00000467329.1:n.-43-18917_-43-18916delinsCA
ENST00000591849.5:c.-99+31833_-99+31834delinsCA	ENSP00000465347.1:n.-99+31833_-99+31834delinsCA
ENST00000634433.1:c.1970_1971delinsCA	ENSP00000489431.1:p.Pro657=
NM_007294.3:c.2093_2094delinsCA , LRG_292t1:c.2093_2094delinsCA	NP_009225.1:p.Pro698=
NM_007297.3:c.1952_1953delinsCA	NP_009228.2:p.Pro651=
NM_007298.3:c.787+1306_787+1307delinsCA	NP_009229.2:n.787+1306_787+1307delinsCA
NM_007299.3:c.787+1306_787+1307delinsCA	NP_009230.2:n.787+1306_787+1307delinsCA
NM_007300.3:c.2093_2094delinsCA	NP_009231.2:p.Pro698=
NR_027676.1:n.2229_2230delinsCA
NM_007294.4:c.2093_2094delinsCA MANE Select	NP_009225.1:p.Pro698=
NM_007297.4:c.1952_1953delinsCA	NP_009228.2:p.Pro651=
NM_007299.4:c.787+1306_787+1307delinsCA	NP_009230.2:n.787+1306_787+1307delinsCA
NM_007300.4:c.2093_2094delinsCA	NP_009231.2:p.Pro698=
NR_027676.2:n.2270_2271delinsCA