Canonical Allele Identifier: CA2260782365
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091861_43091862delinsGA , CM000679.2:g.43091861_43091862delinsGA GRCh38
NC_000017.10:g.41243878_41243879delinsGA , CM000679.1:g.41243878_41243879delinsGA GRCh37
NC_000017.9:g.38497404_38497405delinsGA NCBI36
NG_005905.2:g.126122_126123delinsTC , LRG_292:g.126122_126123delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3733_3734delinsTC
ENST00000461574.2:c.3669_3670delinsTC ENSP00000417241.2:p.Leu1223=
ENST00000470026.6:c.3669_3670delinsTC ENSP00000419274.2:p.Leu1223=
ENST00000473961.6:c.3543_3544delinsTC ENSP00000420201.2:p.Leu1181=
ENST00000476777.6:c.3666_3667delinsTC ENSP00000417554.2:p.Leu1222=
ENST00000477152.6:c.3591_3592delinsTC ENSP00000419988.2:p.Leu1197=
ENST00000478531.6:c.785-830_785-829delinsTC ENSP00000420412.2:n.785-830_785-829delins...
ENST00000489037.2:c.3591_3592delinsTC ENSP00000420781.2:p.Leu1197=
ENST00000493919.6:c.647-830_647-829delinsTC ENSP00000418819.2:n.647-830_647-829delins...
ENST00000494123.6:c.3669_3670delinsTC ENSP00000419103.2:p.Leu1223=
ENST00000497488.2:c.2781_2782delinsTC ENSP00000418986.2:p.Leu927=
ENST00000618469.2:c.3669_3670delinsTC ENSP00000478114.2:p.Leu1223=
ENST00000634433.2:c.3546_3547delinsTC ENSP00000489431.2:p.Leu1182=
ENST00000644379.2:c.3669_3670delinsTC ENSP00000496570.2:p.Leu1223=
ENST00000644555.2:c.647-830_647-829delinsTC ENSP00000494614.2:n.647-830_647-829delins...
ENST00000652672.2:c.3528_3529delinsTC ENSP00000498906.2:p.Leu1176=
ENST00000484087.6:c.665-830_665-829delinsTC ENSP00000419481.2:n.665-830_665-829delins...
ENST00000700182.1:c.707-830_707-829delinsTC ENSP00000514849.1:n.707-830_707-829delins...
ENST00000357654.9:c.3669_3670delinsTC MANE Select ENSP00000350283.3:p.Leu1223=
ENST00000471181.7:c.3669_3670delinsTC ENSP00000418960.2:p.Leu1223=
ENST00000352993.7:c.671-830_671-829delinsTC ENSP00000312236.5:n.671-830_671-829delins...
ENST00000354071.7:c.3669_3670delinsTC ENSP00000326002.7:p.Leu1223=
ENST00000357654.7:c.3669_3670delinsTC ENSP00000350283.3:p.Leu1223=
ENST00000461221.5:c.*3452_*3453delinsTC ENSP00000418548.1:n.*3452_*3453delinsTC
ENST00000468300.5:c.788-830_788-829delinsTC ENSP00000417148.1:n.788-830_788-829delins...
ENST00000471181.6:c.3669_3670delinsTC ENSP00000418960.2:p.Leu1223=
ENST00000478531.5:c.785-830_785-829delinsTC ENSP00000420412.1:n.785-830_785-829delins...
ENST00000484087.5:c.410-830_410-829delinsTC ENSP00000419481.1:n.410-830_410-829delins...
ENST00000487825.5:c.413-830_413-829delinsTC ENSP00000418212.1:n.413-830_413-829delins...
ENST00000491747.6:c.788-830_788-829delinsTC ENSP00000420705.2:n.788-830_788-829delins...
ENST00000493795.5:c.3528_3529delinsTC ENSP00000418775.1:p.Leu1176=
ENST00000493919.5:c.647-830_647-829delinsTC ENSP00000418819.1:n.647-830_647-829delins...
ENST00000586385.5:c.5-27911_5-27910delinsTC ENSP00000465818.1:n.5-27911_5-27910delins...
ENST00000591534.5:c.-43-17341_-43-17340delinsTC ENSP00000467329.1:n.-43-17341_-43-17340de...
ENST00000591849.5:c.-99+33409_-99+33410delinsTC ENSP00000465347.1:n.-99+33409_-99+33410de...
NM_007294.3:c.3669_3670delinsTC , LRG_292t1:c.3669_3670delinsTC NP_009225.1:p.Leu1223=
NM_007297.3:c.3528_3529delinsTC NP_009228.2:p.Leu1176=
NM_007298.3:c.788-830_788-829delinsTC NP_009229.2:n.788-830_788-829delinsTC
NM_007299.3:c.788-830_788-829delinsTC NP_009230.2:n.788-830_788-829delinsTC
NM_007300.3:c.3669_3670delinsTC NP_009231.2:p.Leu1223=
NR_027676.1:n.3805_3806delinsTC
NM_007294.4:c.3669_3670delinsTC MANE Select NP_009225.1:p.Leu1223=
NM_007297.4:c.3528_3529delinsTC NP_009228.2:p.Leu1176=
NM_007299.4:c.788-830_788-829delinsTC NP_009230.2:n.788-830_788-829delinsTC
NM_007300.4:c.3669_3670delinsTC NP_009231.2:p.Leu1223=
NR_027676.2:n.3846_3847delinsTC