Canonical Allele Identifier: CA2260783984

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093454_43093456delinsCAT , CM000679.2:g.43093454_43093456delinsCAT	GRCh38
NC_000017.10:g.41245471_41245473delinsCAT , CM000679.1:g.41245471_41245473delinsCAT	GRCh37
NC_000017.9:g.38498997_38498999delinsCAT	NCBI36
NG_005905.2:g.124528_124530delinsATG , LRG_292:g.124528_124530delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2139_2141delinsATG
ENST00000461574.2:c.2075_2077delinsATG	ENSP00000417241.2:p.His692=
ENST00000470026.6:c.2075_2077delinsATG	ENSP00000419274.2:p.His692=
ENST00000473961.6:c.1949_1951delinsATG	ENSP00000420201.2:p.His650=
ENST00000476777.6:c.2072_2074delinsATG	ENSP00000417554.2:p.His691=
ENST00000477152.6:c.1997_1999delinsATG	ENSP00000419988.2:p.His666=
ENST00000478531.6:c.784+1288_784+1290delinsATG	ENSP00000420412.2:n.784+1288_784+1290delinsATG
ENST00000489037.2:c.1997_1999delinsATG	ENSP00000420781.2:p.His666=
ENST00000493919.6:c.646+1288_646+1290delinsATG	ENSP00000418819.2:n.646+1288_646+1290delinsATG
ENST00000494123.6:c.2075_2077delinsATG	ENSP00000419103.2:p.His692=
ENST00000497488.2:c.1187_1189delinsATG	ENSP00000418986.2:p.His396=
ENST00000618469.2:c.2075_2077delinsATG	ENSP00000478114.2:p.His692=
ENST00000634433.2:c.1952_1954delinsATG	ENSP00000489431.2:p.His651=
ENST00000644379.2:c.2075_2077delinsATG	ENSP00000496570.2:p.His692=
ENST00000644555.2:c.646+1288_646+1290delinsATG	ENSP00000494614.2:n.646+1288_646+1290delinsATG
ENST00000652672.2:c.1934_1936delinsATG	ENSP00000498906.2:p.His645=
ENST00000484087.6:c.664+1288_664+1290delinsATG	ENSP00000419481.2:n.664+1288_664+1290delinsATG
ENST00000700182.1:c.706+1288_706+1290delinsATG	ENSP00000514849.1:n.706+1288_706+1290delinsATG
ENST00000357654.9:c.2075_2077delinsATG MANE Select	ENSP00000350283.3:p.His692=
ENST00000471181.7:c.2075_2077delinsATG	ENSP00000418960.2:p.His692=
ENST00000352993.7:c.670+2390_670+2392delinsATG	ENSP00000312236.5:n.670+2390_670+2392delinsATG
ENST00000354071.7:c.2075_2077delinsATG	ENSP00000326002.7:p.His692=
ENST00000357654.7:c.2075_2077delinsATG	ENSP00000350283.3:p.His692=
ENST00000461221.5:c.*1858_*1860delinsATG	ENSP00000418548.1:n.*1858_*1860delinsATG
ENST00000468300.5:c.787+1288_787+1290delinsATG	ENSP00000417148.1:n.787+1288_787+1290delinsATG
ENST00000471181.6:c.2075_2077delinsATG	ENSP00000418960.2:p.His692=
ENST00000478531.5:c.784+1288_784+1290delinsATG	ENSP00000420412.1:n.784+1288_784+1290delinsATG
ENST00000484087.5:c.409+1288_409+1290delinsATG	ENSP00000419481.1:n.409+1288_409+1290delinsATG
ENST00000487825.5:c.412+1288_412+1290delinsATG	ENSP00000418212.1:n.412+1288_412+1290delinsATG
ENST00000491747.6:c.787+1288_787+1290delinsATG	ENSP00000420705.2:n.787+1288_787+1290delinsATG
ENST00000493795.5:c.1934_1936delinsATG	ENSP00000418775.1:p.His645=
ENST00000493919.5:c.646+1288_646+1290delinsATG	ENSP00000418819.1:n.646+1288_646+1290delinsATG
ENST00000586385.5:c.5-29505_5-29503delinsATG	ENSP00000465818.1:n.5-29505_5-29503delinsATG
ENST00000591534.5:c.-43-18935_-43-18933delinsATG	ENSP00000467329.1:n.-43-18935_-43-18933delinsATG
ENST00000591849.5:c.-99+31815_-99+31817delinsATG	ENSP00000465347.1:n.-99+31815_-99+31817delinsATG
ENST00000634433.1:c.1952_1954delinsATG	ENSP00000489431.1:p.His651=
NM_007294.3:c.2075_2077delinsATG , LRG_292t1:c.2075_2077delinsATG	NP_009225.1:p.His692=
NM_007297.3:c.1934_1936delinsATG	NP_009228.2:p.His645=
NM_007298.3:c.787+1288_787+1290delinsATG	NP_009229.2:n.787+1288_787+1290delinsATG
NM_007299.3:c.787+1288_787+1290delinsATG	NP_009230.2:n.787+1288_787+1290delinsATG
NM_007300.3:c.2075_2077delinsATG	NP_009231.2:p.His692=
NR_027676.1:n.2211_2213delinsATG
NM_007294.4:c.2075_2077delinsATG MANE Select	NP_009225.1:p.His692=
NM_007297.4:c.1934_1936delinsATG	NP_009228.2:p.His645=
NM_007299.4:c.787+1288_787+1290delinsATG	NP_009230.2:n.787+1288_787+1290delinsATG
NM_007300.4:c.2075_2077delinsATG	NP_009231.2:p.His692=
NR_027676.2:n.2252_2254delinsATG