Canonical Allele Identifier: CA2260782239
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091755_43091757delinsTTC , CM000679.2:g.43091755_43091757delinsTTC GRCh38
NC_000017.10:g.41243772_41243774delinsTTC , CM000679.1:g.41243772_41243774delinsTTC GRCh37
NC_000017.9:g.38497298_38497300delinsTTC NCBI36
NG_005905.2:g.126227_126229delinsGAA , LRG_292:g.126227_126229delinsGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3838_3840delinsGAA
ENST00000461574.2:c.3774_3776delinsGAA ENSP00000417241.2:p.Glu1258=
ENST00000470026.6:c.3774_3776delinsGAA ENSP00000419274.2:p.Glu1258=
ENST00000473961.6:c.3648_3650delinsGAA ENSP00000420201.2:p.Glu1216=
ENST00000476777.6:c.3771_3773delinsGAA ENSP00000417554.2:p.Glu1257=
ENST00000477152.6:c.3696_3698delinsGAA ENSP00000419988.2:p.Glu1232=
ENST00000478531.6:c.785-725_785-723delinsGAA ENSP00000420412.2:n.785-725_785-723delins...
ENST00000489037.2:c.3696_3698delinsGAA ENSP00000420781.2:p.Glu1232=
ENST00000493919.6:c.647-725_647-723delinsGAA ENSP00000418819.2:n.647-725_647-723delins...
ENST00000494123.6:c.3774_3776delinsGAA ENSP00000419103.2:p.Glu1258=
ENST00000497488.2:c.2886_2888delinsGAA ENSP00000418986.2:p.Glu962=
ENST00000618469.2:c.3774_3776delinsGAA ENSP00000478114.2:p.Glu1258=
ENST00000634433.2:c.3651_3653delinsGAA ENSP00000489431.2:p.Glu1217=
ENST00000644379.2:c.3774_3776delinsGAA ENSP00000496570.2:p.Glu1258=
ENST00000644555.2:c.647-725_647-723delinsGAA ENSP00000494614.2:n.647-725_647-723delins...
ENST00000652672.2:c.3633_3635delinsGAA ENSP00000498906.2:p.Glu1211=
ENST00000484087.6:c.665-725_665-723delinsGAA ENSP00000419481.2:n.665-725_665-723delins...
ENST00000700182.1:c.707-725_707-723delinsGAA ENSP00000514849.1:n.707-725_707-723delins...
ENST00000357654.9:c.3774_3776delinsGAA MANE Select ENSP00000350283.3:p.Glu1258=
ENST00000471181.7:c.3774_3776delinsGAA ENSP00000418960.2:p.Glu1258=
ENST00000644379.1:c.95_97delinsGAA
ENST00000352993.7:c.671-725_671-723delinsGAA ENSP00000312236.5:n.671-725_671-723delins...
ENST00000354071.7:c.3774_3776delinsGAA ENSP00000326002.7:p.Glu1258=
ENST00000357654.7:c.3774_3776delinsGAA ENSP00000350283.3:p.Glu1258=
ENST00000461221.5:c.*3557_*3559delinsGAA ENSP00000418548.1:n.*3557_*3559delinsGAA
ENST00000461574.1:c.68_70delinsGAA
ENST00000468300.5:c.788-725_788-723delinsGAA ENSP00000417148.1:n.788-725_788-723delins...
ENST00000471181.6:c.3774_3776delinsGAA ENSP00000418960.2:p.Glu1258=
ENST00000478531.5:c.785-725_785-723delinsGAA ENSP00000420412.1:n.785-725_785-723delins...
ENST00000484087.5:c.410-725_410-723delinsGAA ENSP00000419481.1:n.410-725_410-723delins...
ENST00000487825.5:c.413-725_413-723delinsGAA ENSP00000418212.1:n.413-725_413-723delins...
ENST00000491747.6:c.788-725_788-723delinsGAA ENSP00000420705.2:n.788-725_788-723delins...
ENST00000493795.5:c.3633_3635delinsGAA ENSP00000418775.1:p.Glu1211=
ENST00000493919.5:c.647-725_647-723delinsGAA ENSP00000418819.1:n.647-725_647-723delins...
ENST00000586385.5:c.5-27806_5-27804delinsGAA ENSP00000465818.1:n.5-27806_5-27804delins...
ENST00000591534.5:c.-43-17236_-43-17234delinsGAA ENSP00000467329.1:n.-43-17236_-43-17234de...
ENST00000591849.5:c.-99+33514_-99+33516delinsGAA ENSP00000465347.1:n.-99+33514_-99+33516de...
NM_007294.3:c.3774_3776delinsGAA , LRG_292t1:c.3774_3776delinsGAA NP_009225.1:p.Glu1258=
NM_007297.3:c.3633_3635delinsGAA NP_009228.2:p.Glu1211=
NM_007298.3:c.788-725_788-723delinsGAA NP_009229.2:n.788-725_788-723delinsGAA
NM_007299.3:c.788-725_788-723delinsGAA NP_009230.2:n.788-725_788-723delinsGAA
NM_007300.3:c.3774_3776delinsGAA NP_009231.2:p.Glu1258=
NR_027676.1:n.3910_3912delinsGAA
NM_007294.4:c.3774_3776delinsGAA MANE Select NP_009225.1:p.Glu1258=
NM_007297.4:c.3633_3635delinsGAA NP_009228.2:p.Glu1211=
NM_007299.4:c.788-725_788-723delinsGAA NP_009230.2:n.788-725_788-723delinsGAA
NM_007300.4:c.3774_3776delinsGAA NP_009231.2:p.Glu1258=
NR_027676.2:n.3951_3953delinsGAA