Canonical Allele Identifier: CA2260782919
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092415_43092416delinsGC , CM000679.2:g.43092415_43092416delinsGC GRCh38
NC_000017.10:g.41244432_41244433delinsGC , CM000679.1:g.41244432_41244433delinsGC GRCh37
NC_000017.9:g.38497958_38497959delinsGC NCBI36
NG_005905.2:g.125568_125569delinsGC , LRG_292:g.125568_125569delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3179_3180delinsGC
ENST00000461574.2:c.3115_3116delinsGC ENSP00000417241.2:p.Ala1039=
ENST00000470026.6:c.3115_3116delinsGC ENSP00000419274.2:p.Ala1039=
ENST00000473961.6:c.2989_2990delinsGC ENSP00000420201.2:p.Ala997=
ENST00000476777.6:c.3112_3113delinsGC ENSP00000417554.2:p.Ala1038=
ENST00000477152.6:c.3037_3038delinsGC ENSP00000419988.2:p.Ala1013=
ENST00000478531.6:c.785-1384_785-1383delinsGC ENSP00000420412.2:n.785-1384_785-1383delinsGC
ENST00000489037.2:c.3037_3038delinsGC ENSP00000420781.2:p.Ala1013=
ENST00000493919.6:c.647-1384_647-1383delinsGC ENSP00000418819.2:n.647-1384_647-1383delinsGC
ENST00000494123.6:c.3115_3116delinsGC ENSP00000419103.2:p.Ala1039=
ENST00000497488.2:c.2227_2228delinsGC ENSP00000418986.2:p.Ala743=
ENST00000618469.2:c.3115_3116delinsGC ENSP00000478114.2:p.Ala1039=
ENST00000634433.2:c.2992_2993delinsGC ENSP00000489431.2:p.Ala998=
ENST00000644379.2:c.3115_3116delinsGC ENSP00000496570.2:p.Ala1039=
ENST00000644555.2:c.647-1384_647-1383delinsGC ENSP00000494614.2:n.647-1384_647-1383delinsGC
ENST00000652672.2:c.2974_2975delinsGC ENSP00000498906.2:p.Ala992=
ENST00000484087.6:c.665-1384_665-1383delinsGC ENSP00000419481.2:n.665-1384_665-1383delinsGC
ENST00000700182.1:c.707-1384_707-1383delinsGC ENSP00000514849.1:n.707-1384_707-1383delinsGC
ENST00000357654.9:c.3115_3116delinsGC MANE Select ENSP00000350283.3:p.Ala1039=
ENST00000471181.7:c.3115_3116delinsGC ENSP00000418960.2:p.Ala1039=
ENST00000352993.7:c.671-1384_671-1383delinsGC ENSP00000312236.5:n.671-1384_671-1383delinsGC
ENST00000354071.7:c.3115_3116delinsGC ENSP00000326002.7:p.Ala1039=
ENST00000357654.7:c.3115_3116delinsGC ENSP00000350283.3:p.Ala1039=
ENST00000461221.5:c.*2898_*2899delinsGC ENSP00000418548.1:n.*2898_*2899delinsGC
ENST00000468300.5:c.788-1384_788-1383delinsGC ENSP00000417148.1:n.788-1384_788-1383delinsGC
ENST00000471181.6:c.3115_3116delinsGC ENSP00000418960.2:p.Ala1039=
ENST00000478531.5:c.785-1384_785-1383delinsGC ENSP00000420412.1:n.785-1384_785-1383delinsGC
ENST00000484087.5:c.410-1384_410-1383delinsGC ENSP00000419481.1:n.410-1384_410-1383delinsGC
ENST00000487825.5:c.413-1384_413-1383delinsGC ENSP00000418212.1:n.413-1384_413-1383delinsGC
ENST00000491747.6:c.788-1384_788-1383delinsGC ENSP00000420705.2:n.788-1384_788-1383delinsGC
ENST00000493795.5:c.2974_2975delinsGC ENSP00000418775.1:p.Ala992=
ENST00000493919.5:c.647-1384_647-1383delinsGC ENSP00000418819.1:n.647-1384_647-1383delinsGC
ENST00000586385.5:c.5-28465_5-28464delinsGC ENSP00000465818.1:n.5-28465_5-28464delinsGC
ENST00000591534.5:c.-43-17895_-43-17894delinsGC ENSP00000467329.1:n.-43-17895_-43-17894delinsGC
ENST00000591849.5:c.-99+32855_-99+32856delinsGC ENSP00000465347.1:n.-99+32855_-99+32856delinsGC
NM_007294.3:c.3115_3116delinsGC , LRG_292t1:c.3115_3116delinsGC NP_009225.1:p.Ala1039=
NM_007297.3:c.2974_2975delinsGC NP_009228.2:p.Ala992=
NM_007298.3:c.788-1384_788-1383delinsGC NP_009229.2:n.788-1384_788-1383delinsGC
NM_007299.3:c.788-1384_788-1383delinsGC NP_009230.2:n.788-1384_788-1383delinsGC
NM_007300.3:c.3115_3116delinsGC NP_009231.2:p.Ala1039=
NR_027676.1:n.3251_3252delinsGC
NM_007294.4:c.3115_3116delinsGC MANE Select NP_009225.1:p.Ala1039=
NM_007297.4:c.2974_2975delinsGC NP_009228.2:p.Ala992=
NM_007299.4:c.788-1384_788-1383delinsGC NP_009230.2:n.788-1384_788-1383delinsGC
NM_007300.4:c.3115_3116delinsGC NP_009231.2:p.Ala1039=
NR_027676.2:n.3292_3293delinsGC