Canonical Allele Identifier: CA2260782970
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092471_43092472delinsTG , CM000679.2:g.43092471_43092472delinsTG GRCh38
NC_000017.10:g.41244488_41244489delinsTG , CM000679.1:g.41244488_41244489delinsTG GRCh37
NC_000017.9:g.38498014_38498015delinsTG NCBI36
NG_005905.2:g.125512_125513delinsCA , LRG_292:g.125512_125513delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3123_3124delinsCA
ENST00000461574.2:c.3059_3060delinsCA ENSP00000417241.2:p.Pro1020=
ENST00000470026.6:c.3059_3060delinsCA ENSP00000419274.2:p.Pro1020=
ENST00000473961.6:c.2933_2934delinsCA ENSP00000420201.2:p.Pro978=
ENST00000476777.6:c.3056_3057delinsCA ENSP00000417554.2:p.Pro1019=
ENST00000477152.6:c.2981_2982delinsCA ENSP00000419988.2:p.Pro994=
ENST00000478531.6:c.785-1440_785-1439delinsCA ENSP00000420412.2:n.785-1440_785-1439delinsCA
ENST00000489037.2:c.2981_2982delinsCA ENSP00000420781.2:p.Pro994=
ENST00000493919.6:c.647-1440_647-1439delinsCA ENSP00000418819.2:n.647-1440_647-1439delinsCA
ENST00000494123.6:c.3059_3060delinsCA ENSP00000419103.2:p.Pro1020=
ENST00000497488.2:c.2171_2172delinsCA ENSP00000418986.2:p.Pro724=
ENST00000618469.2:c.3059_3060delinsCA ENSP00000478114.2:p.Pro1020=
ENST00000634433.2:c.2936_2937delinsCA ENSP00000489431.2:p.Pro979=
ENST00000644379.2:c.3059_3060delinsCA ENSP00000496570.2:p.Pro1020=
ENST00000644555.2:c.647-1440_647-1439delinsCA ENSP00000494614.2:n.647-1440_647-1439delinsCA
ENST00000652672.2:c.2918_2919delinsCA ENSP00000498906.2:p.Pro973=
ENST00000484087.6:c.665-1440_665-1439delinsCA ENSP00000419481.2:n.665-1440_665-1439delinsCA
ENST00000700182.1:c.707-1440_707-1439delinsCA ENSP00000514849.1:n.707-1440_707-1439delinsCA
ENST00000357654.9:c.3059_3060delinsCA MANE Select ENSP00000350283.3:p.Pro1020=
ENST00000471181.7:c.3059_3060delinsCA ENSP00000418960.2:p.Pro1020=
ENST00000352993.7:c.671-1440_671-1439delinsCA ENSP00000312236.5:n.671-1440_671-1439delinsCA
ENST00000354071.7:c.3059_3060delinsCA ENSP00000326002.7:p.Pro1020=
ENST00000357654.7:c.3059_3060delinsCA ENSP00000350283.3:p.Pro1020=
ENST00000461221.5:c.*2842_*2843delinsCA ENSP00000418548.1:n.*2842_*2843delinsCA
ENST00000468300.5:c.788-1440_788-1439delinsCA ENSP00000417148.1:n.788-1440_788-1439delinsCA
ENST00000471181.6:c.3059_3060delinsCA ENSP00000418960.2:p.Pro1020=
ENST00000478531.5:c.785-1440_785-1439delinsCA ENSP00000420412.1:n.785-1440_785-1439delinsCA
ENST00000484087.5:c.410-1440_410-1439delinsCA ENSP00000419481.1:n.410-1440_410-1439delinsCA
ENST00000487825.5:c.413-1440_413-1439delinsCA ENSP00000418212.1:n.413-1440_413-1439delinsCA
ENST00000491747.6:c.788-1440_788-1439delinsCA ENSP00000420705.2:n.788-1440_788-1439delinsCA
ENST00000493795.5:c.2918_2919delinsCA ENSP00000418775.1:p.Pro973=
ENST00000493919.5:c.647-1440_647-1439delinsCA ENSP00000418819.1:n.647-1440_647-1439delinsCA
ENST00000586385.5:c.5-28521_5-28520delinsCA ENSP00000465818.1:n.5-28521_5-28520delinsCA
ENST00000591534.5:c.-43-17951_-43-17950delinsCA ENSP00000467329.1:n.-43-17951_-43-17950delinsCA
ENST00000591849.5:c.-99+32799_-99+32800delinsCA ENSP00000465347.1:n.-99+32799_-99+32800delinsCA
NM_007294.3:c.3059_3060delinsCA , LRG_292t1:c.3059_3060delinsCA NP_009225.1:p.Pro1020=
NM_007297.3:c.2918_2919delinsCA NP_009228.2:p.Pro973=
NM_007298.3:c.788-1440_788-1439delinsCA NP_009229.2:n.788-1440_788-1439delinsCA
NM_007299.3:c.788-1440_788-1439delinsCA NP_009230.2:n.788-1440_788-1439delinsCA
NM_007300.3:c.3059_3060delinsCA NP_009231.2:p.Pro1020=
NR_027676.1:n.3195_3196delinsCA
NM_007294.4:c.3059_3060delinsCA MANE Select NP_009225.1:p.Pro1020=
NM_007297.4:c.2918_2919delinsCA NP_009228.2:p.Pro973=
NM_007299.4:c.788-1440_788-1439delinsCA NP_009230.2:n.788-1440_788-1439delinsCA
NM_007300.4:c.3059_3060delinsCA NP_009231.2:p.Pro1020=
NR_027676.2:n.3236_3237delinsCA