Canonical Allele Identifier: CA2260777957

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082412_43082413delinsGA , CM000679.2:g.43082412_43082413delinsGA	GRCh38
NC_000017.10:g.41234429_41234430delinsGA , CM000679.1:g.41234429_41234430delinsGA	GRCh37
NC_000017.9:g.38487955_38487956delinsGA	NCBI36
NG_005905.2:g.135571_135572delinsTC , LRG_292:g.135571_135572delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4348_4349delinsTC	ENSP00000417241.2:p.Ser1450=
ENST00000470026.6:c.4348_4349delinsTC	ENSP00000419274.2:p.Ser1450=
ENST00000473961.6:c.4222_4223delinsTC	ENSP00000420201.2:p.Ser1408=
ENST00000476777.6:c.4342_4343delinsTC	ENSP00000417554.2:p.Ser1448=
ENST00000477152.6:c.4270_4271delinsTC	ENSP00000419988.2:p.Ser1424=
ENST00000478531.6:c.1036_1037delinsTC	ENSP00000420412.2:p.Ser346=
ENST00000489037.2:c.4270_4271delinsTC	ENSP00000420781.2:p.Ser1424=
ENST00000493919.6:c.898_899delinsTC	ENSP00000418819.2:p.Ser300=
ENST00000494123.6:c.4348_4349delinsTC	ENSP00000419103.2:p.Ser1450=
ENST00000497488.2:c.3460_3461delinsTC	ENSP00000418986.2:p.Ser1154=
ENST00000618469.2:c.4348_4349delinsTC	ENSP00000478114.2:p.Ser1450=
ENST00000634433.2:c.4225_4226delinsTC	ENSP00000489431.2:p.Ser1409=
ENST00000644379.2:c.4348_4349delinsTC	ENSP00000496570.2:p.Ser1450=
ENST00000644555.2:c.898_899delinsTC	ENSP00000494614.2:p.Ser300=
ENST00000652672.2:c.4207_4208delinsTC	ENSP00000498906.2:p.Ser1403=
ENST00000484087.6:c.913_914delinsTC	ENSP00000419481.2:p.Ser305=
ENST00000700182.1:c.958_959delinsTC	ENSP00000514849.1:p.Ser320=
ENST00000357654.9:c.4348_4349delinsTC MANE Select	ENSP00000350283.3:p.Ser1450=
ENST00000471181.7:c.4348_4349delinsTC	ENSP00000418960.2:p.Ser1450=
ENST00000644379.1:c.669_670delinsTC
ENST00000352993.7:c.922_923delinsTC	ENSP00000312236.5:p.Ser308=
ENST00000357654.7:c.4348_4349delinsTC	ENSP00000350283.3:p.Ser1450=
ENST00000461221.5:c.*4131_*4132delinsTC	ENSP00000418548.1:n.*4131_*4132delinsTC
ENST00000461574.1:c.642_643delinsTC
ENST00000468300.5:c.1039_1040delinsTC	ENSP00000417148.1:p.Ser347=
ENST00000471181.6:c.4348_4349delinsTC	ENSP00000418960.2:p.Ser1450=
ENST00000478531.5:c.1036_1037delinsTC	ENSP00000420412.1:p.Ser346=
ENST00000484087.5:c.661_662delinsTC	ENSP00000419481.1:p.Ser221=
ENST00000487825.5:c.664_665delinsTC	ENSP00000418212.1:p.Ser222=
ENST00000491747.6:c.1039_1040delinsTC	ENSP00000420705.2:p.Ser347=
ENST00000493795.5:c.4207_4208delinsTC	ENSP00000418775.1:p.Ser1403=
ENST00000493919.5:c.898_899delinsTC	ENSP00000418819.1:p.Ser300=
ENST00000586385.5:c.5-18462_5-18461delinsTC	ENSP00000465818.1:n.5-18462_5-18461delinsTC
ENST00000591534.5:c.-43-7892_-43-7891delinsTC	ENSP00000467329.1:n.-43-7892_-43-7891delinsTC
ENST00000591849.5:c.-98-32223_-98-32222delinsTC	ENSP00000465347.1:n.-98-32223_-98-32222delinsTC
ENST00000621897.1:n.242_243delinsTC
NM_007294.3:c.4348_4349delinsTC , LRG_292t1:c.4348_4349delinsTC	NP_009225.1:p.Ser1450=
NM_007297.3:c.4207_4208delinsTC	NP_009228.2:p.Ser1403=
NM_007298.3:c.1039_1040delinsTC	NP_009229.2:p.Ser347=
NM_007299.3:c.1039_1040delinsTC	NP_009230.2:p.Ser347=
NM_007300.3:c.4348_4349delinsTC	NP_009231.2:p.Ser1450=
NR_027676.1:n.4484_4485delinsTC
NM_007294.4:c.4348_4349delinsTC MANE Select	NP_009225.1:p.Ser1450=
NM_007297.4:c.4207_4208delinsTC	NP_009228.2:p.Ser1403=
NM_007299.4:c.1039_1040delinsTC	NP_009230.2:p.Ser347=
NM_007300.4:c.4348_4349delinsTC	NP_009231.2:p.Ser1450=
NR_027676.2:n.4525_4526delinsTC