Canonical Allele Identifier: CA2260783728

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093225_43093226delinsAT , CM000679.2:g.43093225_43093226delinsAT	GRCh38
NC_000017.10:g.41245242_41245243delinsAT , CM000679.1:g.41245242_41245243delinsAT	GRCh37
NC_000017.9:g.38498768_38498769delinsAT	NCBI36
NG_005905.2:g.124758_124759delinsAT , LRG_292:g.124758_124759delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2369_2370delinsAT
ENST00000461574.2:c.2305_2306delinsAT	ENSP00000417241.2:p.Ile769=
ENST00000470026.6:c.2305_2306delinsAT	ENSP00000419274.2:p.Ile769=
ENST00000473961.6:c.2179_2180delinsAT	ENSP00000420201.2:p.Ile727=
ENST00000476777.6:c.2302_2303delinsAT	ENSP00000417554.2:p.Ile768=
ENST00000477152.6:c.2227_2228delinsAT	ENSP00000419988.2:p.Ile743=
ENST00000478531.6:c.784+1518_784+1519delinsAT	ENSP00000420412.2:n.784+1518_784+1519delinsAT
ENST00000489037.2:c.2227_2228delinsAT	ENSP00000420781.2:p.Ile743=
ENST00000493919.6:c.646+1518_646+1519delinsAT	ENSP00000418819.2:n.646+1518_646+1519delinsAT
ENST00000494123.6:c.2305_2306delinsAT	ENSP00000419103.2:p.Ile769=
ENST00000497488.2:c.1417_1418delinsAT	ENSP00000418986.2:p.Ile473=
ENST00000618469.2:c.2305_2306delinsAT	ENSP00000478114.2:p.Ile769=
ENST00000634433.2:c.2182_2183delinsAT	ENSP00000489431.2:p.Ile728=
ENST00000644379.2:c.2305_2306delinsAT	ENSP00000496570.2:p.Ile769=
ENST00000644555.2:c.646+1518_646+1519delinsAT	ENSP00000494614.2:n.646+1518_646+1519delinsAT
ENST00000652672.2:c.2164_2165delinsAT	ENSP00000498906.2:p.Ile722=
ENST00000484087.6:c.664+1518_664+1519delinsAT	ENSP00000419481.2:n.664+1518_664+1519delinsAT
ENST00000700182.1:c.706+1518_706+1519delinsAT	ENSP00000514849.1:n.706+1518_706+1519delinsAT
ENST00000357654.9:c.2305_2306delinsAT MANE Select	ENSP00000350283.3:p.Ile769=
ENST00000471181.7:c.2305_2306delinsAT	ENSP00000418960.2:p.Ile769=
ENST00000352993.7:c.671-2194_671-2193delinsAT	ENSP00000312236.5:n.671-2194_671-2193delinsAT
ENST00000354071.7:c.2305_2306delinsAT	ENSP00000326002.7:p.Ile769=
ENST00000357654.7:c.2305_2306delinsAT	ENSP00000350283.3:p.Ile769=
ENST00000461221.5:c.*2088_*2089delinsAT	ENSP00000418548.1:n.*2088_*2089delinsAT
ENST00000468300.5:c.787+1518_787+1519delinsAT	ENSP00000417148.1:n.787+1518_787+1519delinsAT
ENST00000471181.6:c.2305_2306delinsAT	ENSP00000418960.2:p.Ile769=
ENST00000478531.5:c.784+1518_784+1519delinsAT	ENSP00000420412.1:n.784+1518_784+1519delinsAT
ENST00000484087.5:c.409+1518_409+1519delinsAT	ENSP00000419481.1:n.409+1518_409+1519delinsAT
ENST00000487825.5:c.412+1518_412+1519delinsAT	ENSP00000418212.1:n.412+1518_412+1519delinsAT
ENST00000491747.6:c.787+1518_787+1519delinsAT	ENSP00000420705.2:n.787+1518_787+1519delinsAT
ENST00000493795.5:c.2164_2165delinsAT	ENSP00000418775.1:p.Ile722=
ENST00000493919.5:c.646+1518_646+1519delinsAT	ENSP00000418819.1:n.646+1518_646+1519delinsAT
ENST00000586385.5:c.5-29275_5-29274delinsAT	ENSP00000465818.1:n.5-29275_5-29274delinsAT
ENST00000591534.5:c.-43-18705_-43-18704delinsAT	ENSP00000467329.1:n.-43-18705_-43-18704delinsAT
ENST00000591849.5:c.-99+32045_-99+32046delinsAT	ENSP00000465347.1:n.-99+32045_-99+32046delinsAT
ENST00000634433.1:c.2182_2183delinsAT	ENSP00000489431.1:p.Ile728=
NM_007294.3:c.2305_2306delinsAT , LRG_292t1:c.2305_2306delinsAT	NP_009225.1:p.Ile769=
NM_007297.3:c.2164_2165delinsAT	NP_009228.2:p.Ile722=
NM_007298.3:c.787+1518_787+1519delinsAT	NP_009229.2:n.787+1518_787+1519delinsAT
NM_007299.3:c.787+1518_787+1519delinsAT	NP_009230.2:n.787+1518_787+1519delinsAT
NM_007300.3:c.2305_2306delinsAT	NP_009231.2:p.Ile769=
NR_027676.1:n.2441_2442delinsAT
NM_007294.4:c.2305_2306delinsAT MANE Select	NP_009225.1:p.Ile769=
NM_007297.4:c.2164_2165delinsAT	NP_009228.2:p.Ile722=
NM_007299.4:c.787+1518_787+1519delinsAT	NP_009230.2:n.787+1518_787+1519delinsAT
NM_007300.4:c.2305_2306delinsAT	NP_009231.2:p.Ile769=
NR_027676.2:n.2482_2483delinsAT