Canonical Allele Identifier: CA2260782892
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092392_43092402delinsCTTCATTAATA , CM000679.2:g.43092392_43092402delinsCTTCATTAATA GRCh38
NC_000017.10:g.41244409_41244419delinsCTTCATTAATA , CM000679.1:g.41244409_41244419delinsCTTCATTAATA GRCh37
NC_000017.9:g.38497935_38497945delinsCTTCATTAATA NCBI36
NG_005905.2:g.125582_125592delinsTATTAATGAAG , LRG_292:g.125582_125592delinsTATTAATGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3193_3203delinsTATTAATGAAG
ENST00000461574.2:c.3129_3139delinsTATTAATGAAG ENSP00000417241.2:p.Asn1043=
ENST00000470026.6:c.3129_3139delinsTATTAATGAAG ENSP00000419274.2:p.Asn1043=
ENST00000473961.6:c.3003_3013delinsTATTAATGAAG ENSP00000420201.2:p.Asn1001=
ENST00000476777.6:c.3126_3136delinsTATTAATGAAG ENSP00000417554.2:p.Asn1042=
ENST00000477152.6:c.3051_3061delinsTATTAATGAAG ENSP00000419988.2:p.Asn1017=
ENST00000478531.6:c.785-1370_785-1360delinsTATTAATGAAG ENSP00000420412.2:n.785-1370_785-1360delinsTATTAATGAAG
ENST00000489037.2:c.3051_3061delinsTATTAATGAAG ENSP00000420781.2:p.Asn1017=
ENST00000493919.6:c.647-1370_647-1360delinsTATTAATGAAG ENSP00000418819.2:n.647-1370_647-1360delinsTATTAATGAAG
ENST00000494123.6:c.3129_3139delinsTATTAATGAAG ENSP00000419103.2:p.Asn1043=
ENST00000497488.2:c.2241_2251delinsTATTAATGAAG ENSP00000418986.2:p.Asn747=
ENST00000618469.2:c.3129_3139delinsTATTAATGAAG ENSP00000478114.2:p.Asn1043=
ENST00000634433.2:c.3006_3016delinsTATTAATGAAG ENSP00000489431.2:p.Asn1002=
ENST00000644379.2:c.3129_3139delinsTATTAATGAAG ENSP00000496570.2:p.Asn1043=
ENST00000644555.2:c.647-1370_647-1360delinsTATTAATGAAG ENSP00000494614.2:n.647-1370_647-1360delinsTATTAATGAAG
ENST00000652672.2:c.2988_2998delinsTATTAATGAAG ENSP00000498906.2:p.Asn996=
ENST00000484087.6:c.665-1370_665-1360delinsTATTAATGAAG ENSP00000419481.2:n.665-1370_665-1360delinsTATTAATGAAG
ENST00000700182.1:c.707-1370_707-1360delinsTATTAATGAAG ENSP00000514849.1:n.707-1370_707-1360delinsTATTAATGAAG
ENST00000357654.9:c.3129_3139delinsTATTAATGAAG MANE Select ENSP00000350283.3:p.Asn1043=
ENST00000471181.7:c.3129_3139delinsTATTAATGAAG ENSP00000418960.2:p.Asn1043=
ENST00000352993.7:c.671-1370_671-1360delinsTATTAATGAAG ENSP00000312236.5:n.671-1370_671-1360delinsTATTAATGAAG
ENST00000354071.7:c.3129_3139delinsTATTAATGAAG ENSP00000326002.7:p.Asn1043=
ENST00000357654.7:c.3129_3139delinsTATTAATGAAG ENSP00000350283.3:p.Asn1043=
ENST00000461221.5:c.*2912_*2922delinsTATTAATGAAG ENSP00000418548.1:n.*2912_*2922delinsTATTAATGAAG
ENST00000468300.5:c.788-1370_788-1360delinsTATTAATGAAG ENSP00000417148.1:n.788-1370_788-1360delinsTATTAATGAAG
ENST00000471181.6:c.3129_3139delinsTATTAATGAAG ENSP00000418960.2:p.Asn1043=
ENST00000478531.5:c.785-1370_785-1360delinsTATTAATGAAG ENSP00000420412.1:n.785-1370_785-1360delinsTATTAATGAAG
ENST00000484087.5:c.410-1370_410-1360delinsTATTAATGAAG ENSP00000419481.1:n.410-1370_410-1360delinsTATTAATGAAG
ENST00000487825.5:c.413-1370_413-1360delinsTATTAATGAAG ENSP00000418212.1:n.413-1370_413-1360delinsTATTAATGAAG
ENST00000491747.6:c.788-1370_788-1360delinsTATTAATGAAG ENSP00000420705.2:n.788-1370_788-1360delinsTATTAATGAAG
ENST00000493795.5:c.2988_2998delinsTATTAATGAAG ENSP00000418775.1:p.Asn996=
ENST00000493919.5:c.647-1370_647-1360delinsTATTAATGAAG ENSP00000418819.1:n.647-1370_647-1360delinsTATTAATGAAG
ENST00000586385.5:c.5-28451_5-28441delinsTATTAATGAAG ENSP00000465818.1:n.5-28451_5-28441delinsTATTAATGAAG
ENST00000591534.5:c.-43-17881_-43-17871delinsTATTAATGAAG ENSP00000467329.1:n.-43-17881_-43-17871delinsTATTAATGAAG
ENST00000591849.5:c.-99+32869_-99+32879delinsTATTAATGAAG ENSP00000465347.1:n.-99+32869_-99+32879delinsTATTAATGAAG
NM_007294.3:c.3129_3139delinsTATTAATGAAG , LRG_292t1:c.3129_3139delinsTATTAATGAAG NP_009225.1:p.Asn1043=
NM_007297.3:c.2988_2998delinsTATTAATGAAG NP_009228.2:p.Asn996=
NM_007298.3:c.788-1370_788-1360delinsTATTAATGAAG NP_009229.2:n.788-1370_788-1360delinsTATTAATGAAG
NM_007299.3:c.788-1370_788-1360delinsTATTAATGAAG NP_009230.2:n.788-1370_788-1360delinsTATTAATGAAG
NM_007300.3:c.3129_3139delinsTATTAATGAAG NP_009231.2:p.Asn1043=
NR_027676.1:n.3265_3275delinsTATTAATGAAG
NM_007294.4:c.3129_3139delinsTATTAATGAAG MANE Select NP_009225.1:p.Asn1043=
NM_007297.4:c.2988_2998delinsTATTAATGAAG NP_009228.2:p.Asn996=
NM_007299.4:c.788-1370_788-1360delinsTATTAATGAAG NP_009230.2:n.788-1370_788-1360delinsTATTAATGAAG
NM_007300.4:c.3129_3139delinsTATTAATGAAG NP_009231.2:p.Asn1043=
NR_027676.2:n.3306_3316delinsTATTAATGAAG