Canonical Allele Identifier: CA2260782399

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091896_43091900delinsGAGGA , CM000679.2:g.43091896_43091900delinsGAGGA	GRCh38
NC_000017.10:g.41243913_41243917delinsGAGGA , CM000679.1:g.41243913_41243917delinsGAGGA	GRCh37
NC_000017.9:g.38497439_38497443delinsGAGGA	NCBI36
NG_005905.2:g.126084_126088delinsTCCTC , LRG_292:g.126084_126088delinsTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3695_3699delinsTCCTC
ENST00000461574.2:c.3631_3635delinsTCCTC	ENSP00000417241.2:p.Ser1211=
ENST00000470026.6:c.3631_3635delinsTCCTC	ENSP00000419274.2:p.Ser1211=
ENST00000473961.6:c.3505_3509delinsTCCTC	ENSP00000420201.2:p.Ser1169=
ENST00000476777.6:c.3628_3632delinsTCCTC	ENSP00000417554.2:p.Ser1210=
ENST00000477152.6:c.3553_3557delinsTCCTC	ENSP00000419988.2:p.Ser1185=
ENST00000478531.6:c.785-868_785-864delinsTCCTC	ENSP00000420412.2:n.785-868_785-864delinsTCCTC
ENST00000489037.2:c.3553_3557delinsTCCTC	ENSP00000420781.2:p.Ser1185=
ENST00000493919.6:c.647-868_647-864delinsTCCTC	ENSP00000418819.2:n.647-868_647-864delinsTCCTC
ENST00000494123.6:c.3631_3635delinsTCCTC	ENSP00000419103.2:p.Ser1211=
ENST00000497488.2:c.2743_2747delinsTCCTC	ENSP00000418986.2:p.Ser915=
ENST00000618469.2:c.3631_3635delinsTCCTC	ENSP00000478114.2:p.Ser1211=
ENST00000634433.2:c.3508_3512delinsTCCTC	ENSP00000489431.2:p.Ser1170=
ENST00000644379.2:c.3631_3635delinsTCCTC	ENSP00000496570.2:p.Ser1211=
ENST00000644555.2:c.647-868_647-864delinsTCCTC	ENSP00000494614.2:n.647-868_647-864delinsTCCTC
ENST00000652672.2:c.3490_3494delinsTCCTC	ENSP00000498906.2:p.Ser1164=
ENST00000484087.6:c.665-868_665-864delinsTCCTC	ENSP00000419481.2:n.665-868_665-864delinsTCCTC
ENST00000700182.1:c.707-868_707-864delinsTCCTC	ENSP00000514849.1:n.707-868_707-864delinsTCCTC
ENST00000357654.9:c.3631_3635delinsTCCTC MANE Select	ENSP00000350283.3:p.Ser1211=
ENST00000471181.7:c.3631_3635delinsTCCTC	ENSP00000418960.2:p.Ser1211=
ENST00000352993.7:c.671-868_671-864delinsTCCTC	ENSP00000312236.5:n.671-868_671-864delinsTCCTC
ENST00000354071.7:c.3631_3635delinsTCCTC	ENSP00000326002.7:p.Ser1211=
ENST00000357654.7:c.3631_3635delinsTCCTC	ENSP00000350283.3:p.Ser1211=
ENST00000461221.5:c.*3414_*3418delinsTCCTC	ENSP00000418548.1:n.*3414_*3418delinsTCCTC
ENST00000468300.5:c.788-868_788-864delinsTCCTC	ENSP00000417148.1:n.788-868_788-864delinsTCCTC
ENST00000471181.6:c.3631_3635delinsTCCTC	ENSP00000418960.2:p.Ser1211=
ENST00000478531.5:c.785-868_785-864delinsTCCTC	ENSP00000420412.1:n.785-868_785-864delinsTCCTC
ENST00000484087.5:c.410-868_410-864delinsTCCTC	ENSP00000419481.1:n.410-868_410-864delinsTCCTC
ENST00000487825.5:c.413-868_413-864delinsTCCTC	ENSP00000418212.1:n.413-868_413-864delinsTCCTC
ENST00000491747.6:c.788-868_788-864delinsTCCTC	ENSP00000420705.2:n.788-868_788-864delinsTCCTC
ENST00000493795.5:c.3490_3494delinsTCCTC	ENSP00000418775.1:p.Ser1164=
ENST00000493919.5:c.647-868_647-864delinsTCCTC	ENSP00000418819.1:n.647-868_647-864delinsTCCTC
ENST00000586385.5:c.5-27949_5-27945delinsTCCTC	ENSP00000465818.1:n.5-27949_5-27945delinsTCCTC
ENST00000591534.5:c.-43-17379_-43-17375delinsTCCTC	ENSP00000467329.1:n.-43-17379_-43-17375delinsTCCTC
ENST00000591849.5:c.-99+33371_-99+33375delinsTCCTC	ENSP00000465347.1:n.-99+33371_-99+33375delinsTCCTC
NM_007294.3:c.3631_3635delinsTCCTC , LRG_292t1:c.3631_3635delinsTCCTC	NP_009225.1:p.Ser1211=
NM_007297.3:c.3490_3494delinsTCCTC	NP_009228.2:p.Ser1164=
NM_007298.3:c.788-868_788-864delinsTCCTC	NP_009229.2:n.788-868_788-864delinsTCCTC
NM_007299.3:c.788-868_788-864delinsTCCTC	NP_009230.2:n.788-868_788-864delinsTCCTC
NM_007300.3:c.3631_3635delinsTCCTC	NP_009231.2:p.Ser1211=
NR_027676.1:n.3767_3771delinsTCCTC
NM_007294.4:c.3631_3635delinsTCCTC MANE Select	NP_009225.1:p.Ser1211=
NM_007297.4:c.3490_3494delinsTCCTC	NP_009228.2:p.Ser1164=
NM_007299.4:c.788-868_788-864delinsTCCTC	NP_009230.2:n.788-868_788-864delinsTCCTC
NM_007300.4:c.3631_3635delinsTCCTC	NP_009231.2:p.Ser1211=
NR_027676.2:n.3808_3812delinsTCCTC