Canonical Allele Identifier: CA2499224452
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091664_43091673del , CM000679.2:g.43091664_43091673del GRCh38
NC_000017.10:g.41243681_41243690del , CM000679.1:g.41243681_41243690del GRCh37
NC_000017.9:g.38497207_38497216del NCBI36
NG_005905.2:g.126311_126320del , LRG_292:g.126311_126320del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3922_3931del
ENST00000461574.2:c.3858_3867del ENSP00000417241.2:p.Ser1286ArgfsTer18
ENST00000470026.6:c.3858_3867del ENSP00000419274.2:p.Ser1286ArgfsTer18
ENST00000473961.6:c.3732_3741del ENSP00000420201.2:p.Ser1244ArgfsTer18
ENST00000476777.6:c.3855_3864del ENSP00000417554.2:p.Ser1285ArgfsTer18
ENST00000477152.6:c.3780_3789del ENSP00000419988.2:p.Ser1260ArgfsTer18
ENST00000478531.6:c.785-641_785-632del ENSP00000420412.2:n.785-641_785-632del
ENST00000489037.2:c.3780_3789del ENSP00000420781.2:p.Ser1260ArgfsTer18
ENST00000493919.6:c.647-641_647-632del ENSP00000418819.2:n.647-641_647-632del
ENST00000494123.6:c.3858_3867del ENSP00000419103.2:p.Ser1286ArgfsTer18
ENST00000497488.2:c.2970_2979del ENSP00000418986.2:p.Ser990ArgfsTer18
ENST00000618469.2:c.3858_3867del ENSP00000478114.2:p.Ser1286ArgfsTer18
ENST00000634433.2:c.3735_3744del ENSP00000489431.2:p.Ser1245ArgfsTer18
ENST00000644379.2:c.3858_3867del ENSP00000496570.2:p.Ser1286ArgfsTer18
ENST00000644555.2:c.647-641_647-632del ENSP00000494614.2:n.647-641_647-632del
ENST00000652672.2:c.3717_3726del ENSP00000498906.2:p.Ser1239ArgfsTer18
ENST00000484087.6:c.665-641_665-632del ENSP00000419481.2:n.665-641_665-632del
ENST00000700182.1:c.707-641_707-632del ENSP00000514849.1:n.707-641_707-632del
ENST00000357654.9:c.3858_3867del MANE Select ENSP00000350283.3:p.Ser1286ArgfsTer18
ENST00000471181.7:c.3858_3867del ENSP00000418960.2:p.Ser1286ArgfsTer18
ENST00000644379.1:c.179_188del
ENST00000352993.7:c.671-641_671-632del ENSP00000312236.5:n.671-641_671-632del
ENST00000354071.7:c.3858_3867del ENSP00000326002.7:p.Ser1286ArgfsTer18
ENST00000357654.7:c.3858_3867del ENSP00000350283.3:p.Ser1286ArgfsTer18
ENST00000461221.5:c.*3641_*3650del ENSP00000418548.1:n.*3641_*3650del
ENST00000461574.1:c.152_161del
ENST00000468300.5:c.788-641_788-632del ENSP00000417148.1:n.788-641_788-632del
ENST00000471181.6:c.3858_3867del ENSP00000418960.2:p.Ser1286ArgfsTer18
ENST00000478531.5:c.785-641_785-632del ENSP00000420412.1:n.785-641_785-632del
ENST00000484087.5:c.410-641_410-632del ENSP00000419481.1:n.410-641_410-632del
ENST00000487825.5:c.413-641_413-632del ENSP00000418212.1:n.413-641_413-632del
ENST00000491747.6:c.788-641_788-632del ENSP00000420705.2:n.788-641_788-632del
ENST00000493795.5:c.3717_3726del ENSP00000418775.1:p.Ser1239ArgfsTer18
ENST00000493919.5:c.647-641_647-632del ENSP00000418819.1:n.647-641_647-632del
ENST00000586385.5:c.5-27722_5-27713del ENSP00000465818.1:n.5-27722_5-27713del
ENST00000591534.5:c.-43-17152_-43-17143del ENSP00000467329.1:n.-43-17152_-43-17143de...
ENST00000591849.5:c.-99+33598_-99+33607del ENSP00000465347.1:n.-99+33598_-99+33607de...
NM_007294.3:c.3858_3867del , LRG_292t1:c.3858_3867del NP_009225.1:p.Ser1286ArgfsTer18
NM_007297.3:c.3717_3726del NP_009228.2:p.Ser1239ArgfsTer18
NM_007298.3:c.788-641_788-632del NP_009229.2:n.788-641_788-632del
NM_007299.3:c.788-641_788-632del NP_009230.2:n.788-641_788-632del
NM_007300.3:c.3858_3867del NP_009231.2:p.Ser1286ArgfsTer18
NR_027676.1:n.3994_4003del
NM_007294.4:c.3858_3867del MANE Select NP_009225.1:p.Ser1286ArgfsTer18
NM_007297.4:c.3717_3726del NP_009228.2:p.Ser1239ArgfsTer18
NM_007299.4:c.788-641_788-632del NP_009230.2:n.788-641_788-632del
NM_007300.4:c.3858_3867del NP_009231.2:p.Ser1286ArgfsTer18
NR_027676.2:n.4035_4044del