Canonical Allele Identifier: CA2830782335
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091533_43091542delinsGGAATTGG , CM000679.2:g.43091533_43091542delinsGGAATTGG GRCh38
NC_000017.10:g.41243550_41243559delinsGGAATTGG , CM000679.1:g.41243550_41243559delinsGGAATTGG GRCh37
NC_000017.9:g.38497076_38497085delinsGGAATTGG NCBI36
NG_005905.2:g.126442_126451delinsCCAATTCC , LRG_292:g.126442_126451delinsCCAATTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4053_4062delinsCCAATTCC
ENST00000461574.2:c.3989_3998delinsCCAATTCC ENSP00000417241.2:p.Ser1330ThrfsTer7
ENST00000470026.6:c.3989_3998delinsCCAATTCC ENSP00000419274.2:p.Ser1330ThrfsTer7
ENST00000473961.6:c.3863_3872delinsCCAATTCC ENSP00000420201.2:p.Ser1288ThrfsTer7
ENST00000476777.6:c.3986_3995delinsCCAATTCC ENSP00000417554.2:p.Ser1329ThrfsTer7
ENST00000477152.6:c.3911_3920delinsCCAATTCC ENSP00000419988.2:p.Ser1304ThrfsTer7
ENST00000478531.6:c.785-510_785-501delinsCCAATTCC ENSP00000420412.2:n.785-510_785-501delinsCCAATTCC
ENST00000489037.2:c.3911_3920delinsCCAATTCC ENSP00000420781.2:p.Ser1304ThrfsTer7
ENST00000493919.6:c.647-510_647-501delinsCCAATTCC ENSP00000418819.2:n.647-510_647-501delinsCCAATTCC
ENST00000494123.6:c.3989_3998delinsCCAATTCC ENSP00000419103.2:p.Ser1330ThrfsTer7
ENST00000497488.2:c.3101_3110delinsCCAATTCC ENSP00000418986.2:p.Ser1034ThrfsTer7
ENST00000618469.2:c.3989_3998delinsCCAATTCC ENSP00000478114.2:p.Ser1330ThrfsTer7
ENST00000634433.2:c.3866_3875delinsCCAATTCC ENSP00000489431.2:p.Ser1289ThrfsTer7
ENST00000644379.2:c.3989_3998delinsCCAATTCC ENSP00000496570.2:p.Ser1330ThrfsTer7
ENST00000644555.2:c.647-510_647-501delinsCCAATTCC ENSP00000494614.2:n.647-510_647-501delinsCCAATTCC
ENST00000652672.2:c.3848_3857delinsCCAATTCC ENSP00000498906.2:p.Ser1283ThrfsTer7
ENST00000484087.6:c.665-510_665-501delinsCCAATTCC ENSP00000419481.2:n.665-510_665-501delinsCCAATTCC
ENST00000700182.1:c.707-510_707-501delinsCCAATTCC ENSP00000514849.1:n.707-510_707-501delinsCCAATTCC
ENST00000357654.9:c.3989_3998delinsCCAATTCC MANE Select ENSP00000350283.3:p.Ser1330ThrfsTer7
ENST00000471181.7:c.3989_3998delinsCCAATTCC ENSP00000418960.2:p.Ser1330ThrfsTer7
ENST00000644379.1:c.310_319delinsCCAATTCC
ENST00000352993.7:c.671-510_671-501delinsCCAATTCC ENSP00000312236.5:n.671-510_671-501delinsCCAATTCC
ENST00000354071.7:c.3989_3998delinsCCAATTCC ENSP00000326002.7:p.Ser1330ThrfsTer7
ENST00000357654.7:c.3989_3998delinsCCAATTCC ENSP00000350283.3:p.Ser1330ThrfsTer7
ENST00000461221.5:c.*3772_*3781delinsCCAATTCC ENSP00000418548.1:n.*3772_*3781delinsCCAATTCC
ENST00000461574.1:c.283_292delinsCCAATTCC
ENST00000468300.5:c.788-510_788-501delinsCCAATTCC ENSP00000417148.1:n.788-510_788-501delinsCCAATTCC
ENST00000471181.6:c.3989_3998delinsCCAATTCC ENSP00000418960.2:p.Ser1330ThrfsTer7
ENST00000478531.5:c.785-510_785-501delinsCCAATTCC ENSP00000420412.1:n.785-510_785-501delinsCCAATTCC
ENST00000484087.5:c.410-510_410-501delinsCCAATTCC ENSP00000419481.1:n.410-510_410-501delinsCCAATTCC
ENST00000487825.5:c.413-510_413-501delinsCCAATTCC ENSP00000418212.1:n.413-510_413-501delinsCCAATTCC
ENST00000491747.6:c.788-510_788-501delinsCCAATTCC ENSP00000420705.2:n.788-510_788-501delinsCCAATTCC
ENST00000493795.5:c.3848_3857delinsCCAATTCC ENSP00000418775.1:p.Ser1283ThrfsTer7
ENST00000493919.5:c.647-510_647-501delinsCCAATTCC ENSP00000418819.1:n.647-510_647-501delinsCCAATTCC
ENST00000586385.5:c.5-27591_5-27582delinsCCAATTCC ENSP00000465818.1:n.5-27591_5-27582delinsCCAATTCC
ENST00000591534.5:c.-43-17021_-43-17012delinsCCAATTCC ENSP00000467329.1:n.-43-17021_-43-17012delinsCCAATTCC
ENST00000591849.5:c.-99+33729_-99+33738delinsCCAATTCC ENSP00000465347.1:n.-99+33729_-99+33738delinsCCAATTCC
NM_007294.3:c.3989_3998delinsCCAATTCC , LRG_292t1:c.3989_3998delinsCCAATTCC NP_009225.1:p.Ser1330ThrfsTer7
NM_007297.3:c.3848_3857delinsCCAATTCC NP_009228.2:p.Ser1283ThrfsTer7
NM_007298.3:c.788-510_788-501delinsCCAATTCC NP_009229.2:n.788-510_788-501delinsCCAATTCC
NM_007299.3:c.788-510_788-501delinsCCAATTCC NP_009230.2:n.788-510_788-501delinsCCAATTCC
NM_007300.3:c.3989_3998delinsCCAATTCC NP_009231.2:p.Ser1330ThrfsTer7
NR_027676.1:n.4125_4134delinsCCAATTCC
NM_007294.4:c.3989_3998delinsCCAATTCC MANE Select NP_009225.1:p.Ser1330ThrfsTer7
NM_007297.4:c.3848_3857delinsCCAATTCC NP_009228.2:p.Ser1283ThrfsTer7
NM_007299.4:c.788-510_788-501delinsCCAATTCC NP_009230.2:n.788-510_788-501delinsCCAATTCC
NM_007300.4:c.3989_3998delinsCCAATTCC NP_009231.2:p.Ser1330ThrfsTer7
NR_027676.2:n.4166_4175delinsCCAATTCC